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Case history: A 4-month-old male Shih Tzu dog (Case 1) and an 11-month-old female Devon Rex cat (Case 2) were referred to specialist veterinary hospitals for evaluation of right thoracic lameness and growth abnormality in the distal aspect of the forelimb. Clinical findings: Non-weight-bearing lameness and decreased range of motion were noted in the affected limbs of both cases. Case 1 had a plantigrade stance, and a cleft separation between the first and second digits extending upwards to the distal third of the antebrachium. There was no pain on palpation, and the affected limb was shorter than the contralateral. Radiographic examination revealed cleft separation between metacarpal bones I and II, and carpal bone fusion (I, II, III), and the distal radius ended freely and was attached to the first metacarpal bone. Case 2 had a small cleft medial to metacarpal III. The limb was consistently held in abduction and had marked carpal varus. The limb had never been used for weight bearing. Radiographic examination showed agenesis of metacarpal bone II and separation of metacarpals I and III. The radius and ulna were separated and the radial head did not articulate normally at the elbow, leading to marked elbow incongruity. Diagnosis: Ectrodactyly in both cases. Treatment and outcome: Amputation of the radius followed by ulnocarpal arthrodesis were performed in both cases. Follow-up evaluations up to 1 year (Case 1) and 10 weeks (Case 2) after surgery indicated satisfactory arthrodesis fusion, owner satisfaction, and a good clinical outcome. Clinical relevance: Ectrodactyly is a rare congenital deformity of the forelimb with a heterogeneous character, requiring an individualised treatment plan. These are the first cases reported in the literature of ectrodactyly in small animals that were treated successfully with ulnocarpal arthrodesis. This case series therefore provides evidence in support of this treatment option for this heterogeneous congenital deformity. [ABSTRACT FROM AUTHOR]

The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified through this NBS program. Dried blood spots from newborns were initially screened for TREC/KREC levels, and those with values below the cut-off underwent confirmatory testing and further genetic analysis, including whole-exome sequencing (WES). A male newborn was identified with significantly reduced TREC values, indicative of T cell lymphopenia. Genetic analysis revealed a heterozygous NM_003722.5:c.1027C>T variant in TP63, leading to the p.(Arg343Trp) substitution within the DNA binding domain. This mutation has been previously associated with Ectrodactyly–Ectodermal Dysplasia–Cleft lip/palate syndrome (EEC) syndrome and shown to reduce the transactivation activity of TP63 in a dominant-negative manner. This case represents one of the few instances of immune system involvement in a patient with a TP63 mutation, highlighting the need for further investigation into the immunological aspects of TP63-associated disorders. Our findings suggest that comprehensive immunological evaluation should be considered for patients with TP63 mutations to better understand and manage potential immune dysfunctions. [ABSTRACT FROM AUTHOR]

The 17th century was a time of scientific discovery in Europe. Leading academic centers provided the general population with an opportunity to view anatomic dissections of human bodies. Rather than portray idealized versions of individuals, Dutch painters were committed to accurately representing their models. This was true for Johannes Vermeer. The 2023 exhibition of Vermeer's paintings at the Rijksmuseum in Amsterdam provided an unprecedented opportunity to observe 28 of his 37 existing paintings simultaneously in person. Here the authors suggest that in at least eight paintings a visibly pregnant woman is present. Vermeer's wife was pregnant or lactating most of the time during their 22‐year marriage. Further, evidence of specific medical findings and congenital anomalies such as polydactyly, ectrodactyly, alopecia, kyphosis, and hyperthyroidism were observed in the paintings. These have not been previously reported in the medical or art history literature. [ABSTRACT FROM AUTHOR]

Simple Summary: We report a rare congenital deformity of the phalanges of the forelimbs in a 3.5-month-old mixed-breed dog, causing lameness. A unilateral ectrodactyly with hypoplastic polydactyly of the third digit was surgically treated by partial amputation of excess tissue and stabilisation of the proximal metacarpal bones with a cortical screw in compression and a K wire. Three months after the initial surgery, metal fatigue failure necessitated the removal of the implant; however, the dog achieved near physiological limb function three months thereafter. This single case report adds to the knowledge of congenital limb deformities and their treatment options. Objective: To describe a rare congenital deformity of the phalanges and the surgical details and outcome in a dog with ectrodactyly combined with polydactyly. Study design: Single case report. Animal: A 3.5-month-old male intact mixed breed dog with forelimb lameness and paw malformations. Methods: Surgery was performed on a dog with a congenital limb deformity consisting of resection of the extra bone and soft tissue structure to prevent further subluxation of the remaining metacarpals. Stabilisation consisted of a cortical screw in compression and a K wire across the proximal metacarpals. Results: Postoperative radiographs showed adequate implant positioning and good reduction of the proximal metacarpal row. At six weeks, the dog showed improvement in limb function and weight bearing. Major complications occurred at twelve weeks, and revision surgery with implant removal was required. At six months, the dog showed near normal range of motion and no lameness. Conclusions and Clinical Relevance: The decision to perform surgery on a dog with limb deformity resulted in an almost physiological gait, and the dog showed no abnormalities in daily life. This report adds to the literature on congenital limb deformities by describing the combination of ectrodactyly and polydactylism in a canine species, including the surgical approach and outcome. However, the optimal management of this heterogeneous condition is currently unclear. [ABSTRACT FROM AUTHOR]

Split‐hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition. [ABSTRACT FROM AUTHOR]

The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified through this NBS program. Dried blood spots from newborns were initially screened for TREC/KREC levels, and those with values below the cut-off underwent confirmatory testing and further genetic analysis, including whole-exome sequencing (WES). A male newborn was identified with significantly reduced TREC values, indicative of T cell lymphopenia. Genetic analysis revealed a heterozygous NM_003722.5:c.1027C>T variant in TP63, leading to the p.(Arg343Trp) substitution within the DNA binding domain. This mutation has been previously associated with Ectrodactyly–Ectodermal Dysplasia–Cleft lip/palate syndrome (EEC) syndrome and shown to reduce the transactivation activity of TP63 in a dominant-negative manner. This case represents one of the few instances of immune system involvement in a patient with a TP63 mutation, highlighting the need for further investigation into the immunological aspects of TP63-associated disorders. Our findings suggest that comprehensive immunological evaluation should be considered for patients with TP63 mutations to better understand and manage potential immune dysfunctions.

Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could be isolated or depicts a part of diverse syndromic forms. Heterozygous pathogenic variants in the TP63 gene are responsible for at least four rare syndromic human disorders associated with ectrodactyly. Among them, ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) syndrome is characterized by ectodermal dysplasia, excessive freckling, nail dysplasia, and lacrimal duct obstruction, in addition to ectrodactyly and/or syndactyly. Ophthalmic findings are very common in TP63-related disorders, consisting mainly of lacrimal duct hypoplasia. Absent meibomian glands have also been well documented in EEC3 (Ectrodactyly Ectodermal dysplasia Cleft lip/palate) syndrome but not in ADULT syndrome. We report a case of syndromic ectrodactyly consistent with ADULT syndrome, with an additional ophthalmic manifestation of agenesis of meibomian glands. The proband, as well as her elder sister, presented with congenital cone dystrophy. The molecular investigation was performed in the proband using Whole Exome Sequencing. Family segregation of the identified variants was confirmed by Sanger sequencing. Two clinically relevant variants were found in the proband: the novel de novo heterozygous missense c.931A > G (p.Ser311Gly) in the TP63 gene classified as pathogenic, and the homozygous nonsense pathogenic c.1810C > T (p.Arg604Ter) in the CNGB3 gene. The same homozygous CNGB3 variation was also found in the sister, explaining the cone dystrophy in both cases. Whole Exome Sequencing allowed dual molecular diagnoses: de novo TP63-related syndromic ectrodactyly and familial CNGB3-related congenital cone dystrophy. [ABSTRACT FROM AUTHOR]

SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit characteristic developmental abnormalities associated with SHFM, presenting with variable clinical features. Using whole-genome sequencing, we identified a microduplication of a chromosomal segment on locus 10q24.32, specifically spanning positions 102934495 to 103496555, encompassing genes BTRC, POLL, FBXW4 and LBX1 in the proband. Genomic duplications, including these genes, were previously described in patients diagnosed with the third type of SHFM. We validated the presence of this structural rearrangement in 7 family members, including the proband and the proband's father. Remarkably, further investigation demonstrated that the detected duplication exhibits a mosaic state in the phenotypically normal paternal grandmother of the proband, thereby providing a plausible explanation for the absence of a pathological phenotype in her. [ABSTRACT FROM AUTHOR]

Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot. The aim of the treatment of cleft foot and syndactyly is to obtain a normal form and function by closing the cleft defect, obtaining symmetrical and cosmetic feet, allowing patients to wear normal shoes comfortably, and preventing collapse and angulation deformities of the toes. In this study, the treatment of congenital cleft foot and syndactyly coexistence is presented, and it is demonstrated that excess skin after soft-tissue syndactylization of the cleft foot can be used to reconstruct syndactyly defects.

Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot. The aim of the treatment of cleft foot and syndactyly is to obtain a normal form and function by closing the cleft defect, obtaining symmetrical and cosmetic feet, allowing patients to wear normal shoes comfortably, and preventing collapse and angulation deformities of the toes. In this study, the treatment of congenital cleft foot and syndactyly coexistence is presented, and it is demonstrated that excess skin after soft-tissue syndactylization of the cleft foot can be used to reconstruct syndactyly defects. [ABSTRACT FROM AUTHOR]

SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this article, we describe a family in which two members exhibit characteristic developmental abnormalities associated with SHFM, presenting with variable clinical features. Using whole-genome sequencing, we identified a microduplication of a chromosomal segment on locus 10q24.32, specifically spanning positions 102934495 to 103496555, encompassing genes BTRC, POLL, FBXW4 and LBX1 in the proband. Genomic duplications, including these genes, were previously described in patients diagnosed with the third type of SHFM. We validated the presence of this structural rearrangement in 7 family members, including the proband and the proband’s father. Remarkably, further investigation demonstrated that the detected duplication exhibits a mosaic state in the phenotypically normal paternal grandmother of the proband, thereby providing a plausible explanation for the absence of a pathological phenotype in her.

Copyright of Hungarian Medical Journal / Orvosi Hetilap is the property of Akademiai Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Prenatal diagnosis of the Ectrodactyly‐Ectodermal dysplasia‐clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history. Materials and Methods: A case report and a review of the literature was assessed. Results: Our case report showed a singleton foetus "lobster claw" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC‐related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them. Conclusions: A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes. [ABSTRACT FROM AUTHOR]

Objective: To describe a rare congenital deformity of the phalanges and the surgical details and outcome in a dog with ectrodactyly combined with polydactyly. Study design: Single case report. Animal: A 3.5-month-old male intact mixed breed dog with forelimb lameness and paw malformations. Methods: Surgery was performed on a dog with a congenital limb deformity consisting of resection of the extra bone and soft tissue structure to prevent further subluxation of the remaining metacarpals. Stabilisation consisted of a cortical screw in compression and a K wire across the proximal metacarpals. Results: Postoperative radiographs showed adequate implant positioning and good reduction of the proximal metacarpal row. At six weeks, the dog showed improvement in limb function and weight bearing. Major complications occurred at twelve weeks, and revision surgery with implant removal was required. At six months, the dog showed near normal range of motion and no lameness. Conclusions and Clinical Relevance: The decision to perform surgery on a dog with limb deformity resulted in an almost physiological gait, and the dog showed no abnormalities in daily life. This report adds to the literature on congenital limb deformities by describing the combination of ectrodactyly and polydactylism in a canine species, including the surgical approach and outcome. However, the optimal management of this heterogeneous condition is currently unclear.

Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss, craniofacial malformation, and ectodermal dysplasia. Consequently, the condition is characterized by clinical variability that hinders diagnostic and counseling procedures. SHFM1 is caused by pathogenic variants affecting the DLX5/6 genes and/or their tissue-specific enhancers at the 7q21.3 locus. Herein, we report on seven patients from five unrelated Polish families affected by variable symptoms of the SHFM1 spectrum, all harboring 7q21.3 or 7q21.2-q21.3 rearrangements, and provide a genotype–phenotype correlation in the studied cohort.Methods: We applied GTG banding, array-based comparative genomic hybridization (aCGH), and whole-genome sequencing (WGS) in order to identify the causative aberrations in all affected patients.Results: The identified pathogenic structural variants included deletions and/or translocations involving the 7q21.3 locus, i.e., t(7;10)(q21.3;q22.2) and t(7;12)(q21.3;q21.2) in all affected individuals. Interestingly, a sporadic carrier of the latter aberration presented the SHFM1 phenotype with additional features overlapping with Baker–Gordon syndrome (BAGOS), which resulted from the translocation breakpoint at chromosome 12 within the SYT1 gene.Conclusion: Clinical variability of the studied cohort reflects the composition of the DLX5/6 regulatory elements that were dislocated from their target genes by chromosomal rearrangements. The correlation of our data with the previously published observations enabled us to update the phenotypic subregions and regulatory units within the SHFM1 locus. In addition, we present the first case of SHFM1 and BAGOS-like phenotype that resulted from translocation breakpoints at chromosomes 7 and 12, both of which were pathogenic, and consequently, we show the first evidence that BAGOS can also result from the regulatory loss-of-function SYT1 mutations. In this paper, we emphasize the utility of sequence-based approaches in molecular diagnostics of disorders caused by regulatory structural variants.

Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified for this condition is correlated to SHFM1 and maps in the 7q21q22 region. SHFM1 is characterized by autosomal dominant transmission, incomplete penetrance and variable expressivity. Associated features often include hearing loss, intellectual disability/developmental delay and craniofacial abnormalities. Disruption of the DLX5/DLX6 genes, mapping within the SHFM1 locus, is now known to be responsible for the phenotype. Through SNP array, we analyzed a patient affected by SHFM1 associated with deafness and an abnormality of the inner ear (incomplete partition type I); we identified a deletion in 7q21, not involving the DLX5/6 genes, but including exons 15 and 17 of DYNC1I1, known to act as exonic enhancers (eExons) of the DLX5/6 genes. We further demonstrated the role of DYNC1I1 eExons in regulating DLX5/6 expression by means of showing a reduced expression of the DLX5/6 genes through RT-PCR in a patient-derived lymphoblastoid cell line. Furthermore, our data and a review of published cases do not support the hypothesis that DLX5/6 are imprinted in humans. This work is an example of how the disruption of regulatory elements can be responsible for congenital malformations. [ABSTRACT FROM AUTHOR]

This document describes the design and construction of a mechanical device that allows a subject with ectrodactyly to perform a power grip. For this purpose, the coupled bar mechanism for the emulation of a finger is presented, and a system that allows, from a single movement, to perform a large diameter grip, considering design variables obtained from anthropometric and goniometric measurement techniques. This is complemented by kinematic and static analysis, in which the position and force behaviours required in the design are verified. Then, the final construction scheme is carried out by means of computer-assisted design (CAD) software, in which the position behaviour of the distal phalanx end is obtained and compared with the models obtained in Linkage and Matlab. Finally, the work conclusions are presented. [ABSTRACT FROM AUTHOR]

Ebstein anomaly is a challenge to the anaesthetist in terms of large right atrium, atrialised right ventricle and various valve abnormalities associated with it like Tricuspid Regurgitation(TR), Mitral Stenosis(MS), Mitral Regurgitation(MR). In this case study, we report a 14-year-old female child presented with ebstein anomaly and cleft palate in our institution, SMS medical college & hospitals, Jaipur, Rajasthan. Cone’s operation was planned but due to multiple fenestrations in tricuspid leaflet only tricuspid and mitral valves were replaced. Patient was extubated next day with uneventful recovery.

Abstract Background Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherits with variable expressivity and significant incomplete penetrance as high as 50%. Results We have detected 17p13.3 locus one-allele triplication in a male proband from family 1 (F1.1), and duplication in a male proband from family 2 (F2.1) applying array comparative genomic hybridization (array CGH). The rearrangements mapped to the following chromosomal regions–arr[GRCh38] 17p13.3(960254–1291856)×4 in F1.1 and arr[GRCh38] 17p13.3(1227482–1302716)×3 in F2.1. The targeted quantitative PCR revealed that the 17p13.3 locus was also duplicated in the second affected member from family 2 (F2.2; brother of F2.1). In the next step, we performed segregation studies using quantitative PCR and revealed that F1.1 inherited the triplication from his healthy father—F1.2, whereas the locus was unremarkable in the mother of F2.1 & F2.2 and the healthy son of F2.1. However, the duplication was present in a healthy daughter of F2.2, an asymptomatic carrier. The breakpoint analysis allowed to define the exact size and span of the duplicated region in Family 2, i.e., 78,948 bp chr17:1225063–1304010 (HG38). Interestingly, all symptomatic carriers from both families presented with variable SHFLD3 phenotype. The involvement of secondary modifying locus could not be excluded, however, the Sanger sequencing screening of BHLHA9 entire coding sequence was unremarkable for both families. Conclusions We have shed light on the one-allele CNV triplication occurrence that should be considered when a higher probe (over duplication range) signal is noted. Second, all SHFLD3 patients were accurately described regarding infrequent limb phenotypes, which were highly variable even when familial. Of note, all symptomatic individuals were males. SHFLD3 still remains a mysterious ultra-rare disease and our findings do not answer crucial questions regarding the disease low penetrance, variable expression and heterogeneity. However, we have presented some clinical and molecular aspects that may be helpful in daily diagnostic routine, both dysmorphological and molecular assessment, of patients affected with SHFLD3.

This report aimed to present a case of ectrodactyly in a free-living adult female Erinaceus europaeus. At radiography and post-mortem dissection, the right hind limb developed 2 digits and aplasia of 3 digits. No other abnormality was found in this case. Various teratogens may be responsible for occurring skeletal anomalies. To the best of our knowledge, the present study is the first report of ectrodactyly in this species. [ABSTRACT FROM AUTHOR]

Background: Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherits with variable expressivity and significant incomplete penetrance as high as 50%.Results: We have detected 17p13.3 locus one-allele triplication in a male proband from family 1 (F1.1), and duplication in a male proband from family 2 (F2.1) applying array comparative genomic hybridization (array CGH). The rearrangements mapped to the following chromosomal regions-arr[GRCh38] 17p13.3(960254-1291856)×4 in F1.1 and arr[GRCh38] 17p13.3(1227482-1302716)×3 in F2.1. The targeted quantitative PCR revealed that the 17p13.3 locus was also duplicated in the second affected member from family 2 (F2.2; brother of F2.1). In the next step, we performed segregation studies using quantitative PCR and revealed that F1.1 inherited the triplication from his healthy father-F1.2, whereas the locus was unremarkable in the mother of F2.1 & F2.2 and the healthy son of F2.1. However, the duplication was present in a healthy daughter of F2.2, an asymptomatic carrier. The breakpoint analysis allowed to define the exact size and span of the duplicated region in Family 2, i.e., 78,948 bp chr17:1225063-1304010 (HG38). Interestingly, all symptomatic carriers from both families presented with variable SHFLD3 phenotype. The involvement of secondary modifying locus could not be excluded, however, the Sanger sequencing screening of BHLHA9 entire coding sequence was unremarkable for both families.Conclusions: We have shed light on the one-allele CNV triplication occurrence that should be considered when a higher probe (over duplication range) signal is noted. Second, all SHFLD3 patients were accurately described regarding infrequent limb phenotypes, which were highly variable even when familial. Of note, all symptomatic individuals were males. SHFLD3 still remains a mysterious ultra-rare disease and our findings do not answer crucial questions regarding the disease low penetrance, variable expression and heterogeneity. However, we have presented some clinical and molecular aspects that may be helpful in daily diagnostic routine, both dysmorphological and molecular assessment, of patients affected with SHFLD3. [ABSTRACT FROM AUTHOR]

Observations of the osteological features of malformations in lizards are currently limited. In examinations of ca. 1,300 Scincella specimens, one Scincella lateralis specimen and three S. boettgeri specimens were observed to have malformed digits, i.e., ectrodactyly. Each of these specimens had a malformation in only one limb. One S. lateralis specimen lacked digits I–III of manus, and three S. boettgeri specimens lacked digits I, II, or I and II of pedes. Micro-computed tomography scanning revealed that the phalanges and metacarpals of digits I–III were absent in the malformed S. lateralis specimen, whereas the malformed S. boettgeri specimens lacked all phalanges for externally absent toes but had five metatarsals, despite these being shorter in the absent toes than those in normal toes. Although malformed limbs have been reported previously in lizards, this is the first report based on osteological descriptions. Some genera of Scincidae include species that have undergone phylogenetic reduction of their digits. In such species, the developmental order of the phalanges and metacarpals/metatarsals is well-known from embryological studies. With reference to this developmental mechanism, we also discuss the assumed development of the malformed specimens observed in this study. [ABSTRACT FROM AUTHOR]

Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM. [ABSTRACT FROM AUTHOR]

Copyright of Revista de la Academia Mexicana de Odontología Pediátrica (2594-1798) is the property of Academia Mexicana de Odontologia Pediatrica, A. C. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report a case with a classical presentation of Gollop-Wolfgang complex.

A two-month-old German Shepherd pup was presented to Teaching Veterinary Clinical Complex, Mannuthy, Kerala with visible deformity of left forelimb. From the history narrated by the owner, the condition was congenital in occurrence. With the help of radiography, the condition was diagnosed as lobster claw syndrome. Due to the unwillingness of the owner for the surgical correction, we advised the palliative care. [ABSTRACT FROM AUTHOR]

Hand anomalies encompass a wide spectrum of malformations. Ectrodactyly, defined as a complex congenital malformation in the child limbs, occurs in 1 in 8,500 to 25,000 newborns but with the use of sonography may be detected from the early stages of pregnancy. We present a case of a 25- year-old, unmarried woman in her first pregnancy, 13 weeks and 5 days, with no personal antecedents of interest or previous surgical interventions. At the transvaginal ultrasound examination, it appeared that the right hand was missing the second, third and fourth fingers, and there was an abnormal cleft between the first and fifth metacarpal bones, that raised the suspicion of ectrodactyly. After genetic counselling, the pregnant woman decided to terminate the pregnancy. The fetalautopsy confirmed the prenatal diagnosis. Congenital malformations of the extremities of the hands can be extremely disabling because they affect aesthetics and functionality, but, with laboratory analyses, timely diagnosis and, consequently, quality care and a correct diagnosis may come in time for the patient's decision. [ABSTRACT FROM AUTHOR]

Ectrodactyly, also known as split hand/split foot malformation, is a rare congenital disease defined as the absence or underdevelopment of the central digits with a median cleft of the hand or foot. It can be an isolated sonographic finding or associated with a syndrome. This case study describes isolated left-handed ectrodactyly diagnosed sonographically at 20 weeks gestation, during a routine anatomy sonogram. The patient had no family history of this condition, which demonstrates the importance of sonography for early diagnosis, counseling, and genetic testing options. [ABSTRACT FROM AUTHOR]

An ulnar cleft hand is a rare congenital deformity presenting with a cleft between the ring and little finger. It may be associated with the absence of a finger. The goals of treatment are cleft closure, increasing the length of the hypoplastic little finger and preservation of function. We report two patients with ulnar cleft hand without missing fingers. Both underwent cleft closure. One was treated by lengthening of the fifth metacarpal with an external fixator, and the other by finger translocation. Both patients achieved a near normal length of the little finger and a reasonable functional and aesthetic outcome. Level of Evidence: Level V (Therapeutic) [ABSTRACT FROM AUTHOR]

This document describes the design and construction of a mechanical device that allows a subject with ectrodactyly to perform a power grip. For this purpose, the coupled bar mechanism for the emulation of a finger is presented, and a system that allows, from a single movement, to perform a large diameter grip, considering design variables obtained from anthropometric and goniometric measurement techniques. This is complemented by kinematic and static analysis, in which the position and force behaviours required in the design are verified. Then, the final construction scheme is carried out by means of computer-assisted design (CAD) software, in which the position behaviour of the distal phalanx end is obtained and compared with the models obtained in Linkage and Matlab. Finally, the work conclusions are presented. [ABSTRACT FROM AUTHOR]

Split hand/foot malformation is a heterogeneous congenital disorder mainly presented with a median cleft of hands or/and feet. It can be associated with long bone aplasia, a syndrome also known as split hand/foot syndrome with long bone deficiency (SHFLD), which is a very rare condition. We report a very rare case of a male fetus with SHFLD syndrome combined with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. FATCO syndrome is also an extremely infrequent congenital limb defect by itself. Based on our review of the literature, there appears to be no other FATCO case reported in Greece., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Deftereou et al.)

Gollop-Wolfgang complex is a rare anomaly comprising of bifid femur, tibial aplasia or hypoplasia and cleft of hands with variations and other systems involvement. A case of Gollop-Wolfgang complex is reported here, which was associated with other rare anomalies such as bilateral Morton's toe, ventricular septal defect and congenital talepus equinovarus.

Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently tibia. This case report described two sisters with congenital limb defects born to healthy consanguineous parents. The six-year-old girl did not had both radii and the left fibula. There was a cleft in the left hand and the right foot. She had one digit in her right upper limb, but did not have the left foot. The four-year-old girl had short four limbs, bilateral tibial aplasia with single digit in all limbs. Both parents were normal, and no other similar cases was reported in the family. According to the authors' best knowledge, these two cases are the first published cases in Yemen with the SHFMLD, but they need a genetic study to determine their genetic profile.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive disease characterized by degeneration of upper and lower motor neurons. Time from symptom onset to confirmed diagnosis has been reported from 8 to 15 months in ALS. Objectives: To describe the frequency of the split hand phenomenon and propose it as an early biomarker for ALS diagnosis. Methods: A retrospective, analytical, descriptive, and single-center observational study was performed. The split hand ratio was determined by dividing distal abductor pollicis brevis/abductor digit minimi compound muscle action potentials; a result < 0.6 was considered present. Results: Fifty-four patients with ALS diagnosis were included in the study. The split hand ratio was identified in 61.5% of patients with definite ALS, in 68.7% with probable ALS, 80% with possible ALS, and in 50% with suspected ALS. The split hand phenomenon was identified in 60% of patients within 12 months of symptom onset. Conclusion: We provide evidence for an additional neurophysiological tool that helps early diagnosis of ALS. [ABSTRACT FROM AUTHOR]

Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report a case with a classical presentation of Gollop-Wolfgang complex. [ABSTRACT FROM AUTHOR]

We describe a case of ectrodactyly in isolated non-syndromic form claw in three living generation of a Malay family which presented as autosomal dominant pattern of inheritance with sporadic occurrence. To our knowledge, this is the first report of such case in Malaysia. A three-year-old boy with claw toes presented to Paediatric Orthopaedic Unit accompanied by his mother and grandfather. He is an active child with normal intellectual. Neither facial dysmorphism nor cleft lip and palate was observed. His right tibia is shorter than the left one and his ankle is totally dislocated posteriorly. His right foot has only one ray and his right ankle joint is in 100’ equinus. For his left lower limb, the leg and ankle are normal. However, the left foot is bifid with two lateral and one medial ray. He can walk on the stump of distal right ankle but with short limb gait. He prefers to walk in kneeling position as he finds it a bit faster and that he can move freely. Other systemic reviews are unremarkable. His mother was born with the similar deformity on the feet and ankle. She underwent below knee amputation at the age of 6 and has been using prosthesis since after corrective surgery failed. The grandfather has central splits in both hands and bifid femur bilaterally. Only one ray present on each foot. The prognosis for most people with ectrodactyly syndrome is very good. Various cosmetic prosthesis, amputation or reconstructive surgery might help, depending on the type of deformity and as per case basis. Multidisciplinary care would contribute significantly to improve the survival and the quality of life of a child with congenital musculoskeletal malformations such as ectrodactyly. [ABSTRACT FROM AUTHOR]

Discussion Literature search of split hand/foot malformation, otherwise known as ectrodactyly, reveals an exhaustive list of systemic syndromes. Keywords: Case report; dermolipoma; ectrodactyly; ophthalmic presentation; SHFM; split hand-foot malformation EN Case report dermolipoma ectrodactyly ophthalmic presentation SHFM split hand-foot malformation 2613 2615 3 07/15/22 20220701 NES 220701 We report a novel ophthalmic presentation in the form of dermolipoma in a rare disease called split hand/foot malformation (SHFM), also known as ectrodactyly. Case report, dermolipoma, ectrodactyly, ophthalmic presentation, SHFM, split hand-foot malformation. [Extracted from the article]

Abstract Background Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplication involving 17p13.3 region has been described as the most common cause of split hand/foot malformation with long bone deficiency (SHFLD) in several different Caucasian and Asian populations. Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. Case presentation The proband was a female child born to non-consanguineous parents. She was referred for genetic evaluation of bilateral asymmetric ectrodactyly involving both hands and right foot along with right tibial hemimelia. The right foot had fixed clubfoot deformity with only 2 toes. The mother had bilateral ectrodactyly involving both hands, but the rest of the upper limbs and both lower limbs were normal. Neither of them had any other congenital malformations or neurodevelopmental abnormalities. Genetic testing for rearrangement of BHLHA9 gene by quantitative polymerase chain reaction confirmed the duplication of the BHLHA9 gene in both the proband and the mother. Conclusions We report the first Sri Lankan family with genetic diagnosis of BHLHA9 duplication causing SHFLD. This report along with the previously reported cases corroborate the possible etiopathogenic role of BHLHA9 gene dosage imbalances in SHFM and SHFLD across different populations.

Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case of trisomy 18 with atypical features of split-hand/split-foot malformation (SHFM). Case Presentation: A four-months-old baby was brought to hospital with dyspnea and history of multiple congenital anomalies (MCA). Abnormalities found including brachycephaly, facial dysmorphisms, split hands and split feet. Other anomalies were atrial and ventricular septal defects, umbilical hernia, and right lung atelectasis. Based on physical examination and additional workups, SHFM was suspected. Genome-wide array analysis revealed gain on entire chromosome 18. Only few cases of trisomy 18 with SHFM have been reported, with split feet as the most findings. Conclusion: This case represents SHFM as a unique limb involvement in patient with trisomy 18, a valuable finding to be taken into account in trisomy 18 features. Careful examination and diagnosis as well as subsequent genetic counseling are granted, and routine cytogenetic analysis is vital as a first-tier diagnostic workup on patient with MCA.

Abstract Background Herlyn–Werner-Wunderlich syndrome (HWWS) is an uncommon congenital anomaly of the female urogenital tract, characterised by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. We reported the difficult pregnancy course complicated by an extremely rare and unique case of this syndrome associated with ectrodactyly, a clinical combination never described in literature. Case presentation A 28- year-old nulliparous woman previously diagnosed for HWWS associated with ectrodactyly of the right foot and with a history of abdominal left hemi-hysterectomy, ipsilateral salpingectomy, vaginal reconstruction when she was an adolescent. She suffered from threats of abortion in the first trimester, recurrent urinary tract infections during all pregnancy. At 33 weeks + 5 days of gestational age, she was hospitalized for premature rupture of the membranes and uterine contractions and a caesarean section was performed because of breech presentation. Postpartum period was complicated by a pelvic abscess resolved with parental antibiotic therapies. Conclusions Our literature review shows an unusual aspect in our case: HWWS is not classically associated with skeletal anomalies. Moreover, the most frequent urogenital side affected is the right, not left side as in this woman. Preterm spontaneous rupture of membranes and fetal abnormal presentation represent frequent complications and probably post-caesarean infections are related to pregnancies in the context of this syndrome.

This report describes a preterm male infant with phenotypic features of mild facial dysmorphism, congenital abnormalities of the hands and feet, corneal clouding, hypertonia, bilateral sensorineural hearing loss, and bilateral ventriculomegaly. His clinical course was significant for severe cyanotic episodes associated with the advancement of feed volume. Microarray analysis identified a large constitutional de novo deletion of 7q21.3q31.1. This rare deletion has never been reported in a preterm infant, and the management of this patient will help offer clinical guidance for this genetic condition. [ABSTRACT FROM AUTHOR]

Klippel–Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel–Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel–Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented. [ABSTRACT FROM AUTHOR]

Background/Aim: Bone tissue engineering is an emerging field of regenerative medicine that holds promise for the restoration of bones affected by trauma, neoplastic diseases, and congenital deformity. During the past decade, bone tissue engineering has evolved from the use of biomaterials that can only replace small areas of damaged bone, to the use of scaffolds in which grafts can be seeded before implantation. This case report proposes an alternative option for a veterinary patient suffering from ectrodactyly, which is one of several congenital deformities in dogs. A 2-month-old male toy poodle dog with ectrodactyly was treated using several stages of surgery involving pancarpal arthrodesis, limb lengthening, and bone tissue engineering techniques. Results and Conclusion: Over a period of 2 years, the operated limb gained almost the same function as the contralateral limb. Bone tissue engineering techniques can be used for the treatment of congenital deformities in dogs. [ABSTRACT FROM AUTHOR]

Congenital cleft foot is a deformity characterised by genetic heterogeneity and a high degree of phenotypic variability. This together with its very low incidence is the reason for rather controversial opinions on the treatment. The authors present a case study of a boy with unilateral cleft foot classified as type III by Blauth-Borisch and type II by Abraham et al., who underwent a surgery at the age of 12 months. The defect was closed by rectangular soft tissue flaps, the intermetatarsal ligament connecting the first metatarsal head and the third metatarsal head was reconstructed with local fibrous tissue flap. The present hypermobility with extension position of the first ray were stabilised by the Kirschner wire inserted along the axis of the first ray from the dorsum of the talus through the middle of its head to the medial chondrogenic tarsal bones and further through the first metatarsal bone and the corrected metatarsophalangeal joint of the hallux. At the age of 6 years and 7 months, due to dynamic abductovalgus foot deformity, lengthening calcaneal osteotomy was also performed. Favourable clinical and radiographic outcomes of the used surgical technique were observed by the authors. The cleft foot as such shall be treated after a thorough evaluation of the patient and his/her necessary monitoring during the childhood. [ABSTRACT FROM AUTHOR]

Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently tibia. This case report described two sisters with congenital limb defects born to healthy consanguineous parents. The six-year-old girl did not had both radii and the left fibula. There was a cleft in the left hand and the right foot. She had one digit in her right upper limb, but did not have the left foot. The four-year-old girl had short four limbs, bilateral tibial aplasia with single digit in all limbs. Both parents were normal, and no other similar cases was reported in the family. According to the authors' best knowledge, these two cases are the first published cases in Yemen with the SHFMLD, but they need a genetic study to determine their genetic profile. [ABSTRACT FROM AUTHOR]

Split Hand/Foot Malformation (SHFM) is a rare genetic disorder. It is also known as ectrodactyly. In this disorder, the central rays of the hand and feet are affected leading to various malformations of the hands and feet. Any number of limbs can be affected. It can present in isolation affecting only the limbs or it can be associated with the syndrome. The prevalence of this malformation is 0.06 per 1000 total births. Here, authors report a case in which a pregnant patient had SHFM and the fetus also suffered the same anomaly. The anomaly was detected on ultrasound and medical termination of pregnancy was done.