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Background: The congenital insufficiency of the extensor tendon central slip of the fingers is a relatively rare condition, with only a few reported cases in pediatric patients, as described in 2 clinical series. In this study, we aimed to present the natural history of a significant number of untreated patients with this deformity., Methods: This study has received institutional review board approval, and parents provided informed consent following the Declaration of Helsinki guidelines for biomedical research involving humans. A retrospective analysis of children with this deformity, ranging from June 2008 to July 2021, was collected by 1 surgeon. The inclusion criteria included children with a supple PIP flexion deformity, characterized by MP hyperextension and PIP extension lag, which had been present since birth. Complete passive PIP extension and the absence of volar skin webbing differentiated this condition from camptodactyly., Results: The mean age of 24 children with 57 involved digits at diagnosis was 7 months (range, 1 to 17) and the mean follow-up was 6 years to 9 months (2 yr to 1 mo to 13 yr). Six patients had an incorrect previous diagnosis of camptodactyly.Active PIP extension recovered progressively. At the final follow-up, complete PIP extension occurred in all except 4 cases in which a residual 10° extension lag. The mean time for a complete active PIP extension was 2 years to 7 months (20 mo to 3 yr to 9 mo). Nineteen cases (79%) showed a mild FDS contracture of the involved digits at the final follow-up.The deformity was bilateral in 15 children (62.5%) and involved only 1 finger (unilaterally or bilaterally) in 15 cases (62.5%), and 2 fingers in 6 (25%). Little and ring fingers were most commonly involved. In 7 cases, there was a family history of finger deformity., Conclusions: Congenital insufficiency of the extensor tendon central slip typically resolves spontaneously within the first 4 years of life. Literature suggests that splinting can expedite the correction of the deformity and thus, if possible, it can be used. In most cases, a residual, clinically insignificant FDS contracture may be present. This condition is often misdiagnosed as camptodactyly., Level of Evidence: IV., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: The size of talocalcaneal tarsal coalitions (TCCs) is one of the main factors that is thought to influence patient outcomes after resection. Magnetic resonance imaging (MRI) is increasingly being used to diagnose and characterize TCCs. However, there is no reproducible MRI-based measurement of TCC size reported in the literature. The purpose of this study was to create a method to reproducibly measure TCC size using MRI., Methods: Twenty-seven patients with TCCs diagnosed by a hindfoot coronal proton density (PD) MRI between 2017 and 2020 were included. Five independent raters measured coalition width, healthy posterior facet width, and healthy middle facet width on individual slices of coronal PD hindfoot MRIs using discrete MRI measurement guidelines. Individual slice measurements were summed to determine total size of the coalition and the remaining healthy cartilage of the posterior and middle facets. Inter-rater reliability of MRI measurements between the 5 independent examiners was evaluated using intraclass correlation coefficient (ICC). ICC was calculated for total coalition width, total healthy posterior facet width, total coalition width/total healthy posterior facet width, total coalition width/total healthy middle facet width, total coalition width/total healthy subtalar facet width (posterior facet+middle facet), and total coalition width/total subtalar facet width (coalition+posterior facet+middle facet)., Results: The ICC scores for all but one of the MRI measurements indicated good to excellent inter-rater reliability among the 5 examiners. The ICC was 0.932 (95% confidence interval: 0.881-0.966) for measurement of total coalition width/total healthy posterior facet width and 0.948 (95% confidence interval: 0.908-0.973) for measurement of total coalition width/total subtalar facet width (middle+posterior+coalition)., Conclusions: Measurements of coalition size using novel MRI guidelines were reproducible with good to excellent inter-rater reliability. These guidelines allow for determination of TCC size using coronal PD MRI., Level of Evidence: Level II-diagnostic reproducibility study., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Ectrodactyly, commonly referred to as cleft hand, is a rare pathology characterized by a deficiency and/or complete absence of the central ray in each hand. In order to customize treatment and improve the patient's quality of life, a more detailed functional evaluation is required. Although several studies evaluate functionality in different types of cleft hands, there are only a few studies that show self-reported evaluations. The objective of this study is to assess the hand function of cleft hand patients., Methods: An observational retrospective study was performed on 12 cleft hand patients who were treated between 2008 and 2018. There were 8 male patients and 4 female patients. Patients were divided into 2 groups according to their ages: (Group 1) 6 patients between 1 and 7 years of age, and (Group 2) 6 patients between 8 and 18 years of age, respectively. Each group was sub-stratified into 5 subgroups according to the classification system created by Manske and Halikis., Results: Regardless of age, intragroup hand type comparisons within Groups 1 and 2 did not demonstrate statistically significant differences (P > 0.05) between hand outcomes according to Manske and Halikis classification. Comparison between cleft hand patients and their age matched controls demonstrated statistically significant differences (P < 0.05), as the patients in the control group had higher outcome scores., Conclusions: Regardless of cleft hand type and patient age, patients with cleft hands experience impaired hand function and present lower outcome scores in comparison to their age matched controls., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by Mutaz B. Habal, MD.)

Objectives: To better distinguish NOG-related-symphalangism spectrum disorder (NOG-SSD) from chromosomal 17q22 microdeletion syndromes and to inform surgical considerations in stapes surgery for patients with NOG-SSD., Background: Mutations in NOG cause a variety of skeletal syndromes that often include conductive hearing loss. Several microdeletions of chromosome 17q22 lead to severe syndromes with clinical characteristics that overlap NOG-SSD. Isolated deletion of NOG has not been described, and therefore the contribution of NOG deletion in these syndromes is unknown., Methods: Two families with autosomal dominant NOG-SSD exhibited stapes ankylosis, facial dysmorphisms, and skeletal and joint anomalies. In each family, NOG was evaluated by genomic sequencing and candidate mutations confirmed as damaging by in vitro assays. Temporal bone histology of a patient with NOG-SSD was compared with temporal bones of 40 patients diagnosed with otosclerosis., Results: Family 1 harbors a 555 kb chromosomal deletion encompassing only NOG and ANKFN1. Family 2 harbors a missense mutation in NOG leading to absence of noggin protein. The incus-footplate distance of the temporal bone was significantly longer in a patient with NOG-SSD than in patients with otosclerosis., Conclusion: The chromosomal microdeletion of family 1 led to a phenotype comparable to that due to a NOG point mutation and much milder than the phenotypes due to other chromosome 17q22 microdeletions. Severe clinical findings in other microdeletion cases are likely due to deletion of genes other than NOG. Based on temporal bone findings, we recommend that surgeons obtain longer stapes prostheses before stapes surgery in individuals with NOG-SSD stapes ankylosis., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2021, Otology & Neurotology, Inc.)

The painting, "The First Act of Mercy" shows a subject with complex lower limb anomalies. The probable diagnosis is discussed., Competing Interests: The author declares no conflicts of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

We report on a patient with a clinical phenotype showing all the features of the multiple synostoses syndrome or the facioaudiosymphalangism syndrome, including symphalangism, condunction deafness, and the typical facies. Previously, it was shown that this condition is genetically heterogeneous with initially mutations described in the NOG gene, coding for Noggin, an extracellular antagonist of bone morphogenetic proteins. Noggin also interacts with growth differentiation factor 5 (GDF5), in which mutations have also been described in families with symphalangism. The latter is also the case for the BMP receptor BMPR1B to which GDF5 binds. Finally, a mutation in another growth factor, fibroblast growth factor 9, was found in a family with multiple synostoses syndrome. In our patient, we could, however, not show a causative mutation in any of these genes, providing evidence for further genetic heterogeneity of this syndrome.

We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.

We report a 21-year-old woman who has moderate to severe pulmonary hypertension, short stature, dysmorphic appearance, lipodystrophy and sclerodactyly-like involvement of her extremities. Cognitive development is in the low-average range. Various diagnoses have been suggested over the years, but none seem to fit her clinical presentation exactly. We suggest that she may have a previously undescribed connective tissue disorder with primary pulmonary involvement.

The aim of this study was to characterize a group of patients with hypoplasia of the thumb, classifying them, describing the associated anomalies and to evaluate the results of surgical treatment of such cases. Thumb hypoplasia is a complex and heterogeneous congenital disorder that is detrimental to hand functions. The characteristics of patients with these anomalies are not well described in the literature. A prospective study on 51 patients with 82 hypoplastic thumbs was done. All the patients' data regarding their personal, family, pregnancy and developmental histories were recorded. All the patients were exposed to thorough clinical examination with genetic assessment and radiological examination including abdominal ultrasonography and echocardiography when requested by the paediatrician. The cases were classified using the modified Blauth classification into five types and we added the five-fingered hand. Surgical treatment was performed for 26 hands in 18 patients and the postoperative results were recorded with an average duration of follow-up of 38.6 months. Of the 51 patients, there was a positive consanguinity in 23.5%. Eighty-six per cent were found to have associated anomalies. Type V thumb hypoplasia was the most common type followed by type IV, with type I being the least common. All the patients' parents were satisfied with the results of surgical treatment and noticed improvement of the performance of the operated hands in the daily activities. We detected some anomalies that have never been described before or described as case reports only; such as lacunar skull, congenital facial palsy and toe amputation; we also described familial radial side dysplasia with variable presentation of congenital anomalies of the thumb in the families. In addition, we think that the five-fingered hand should be added to the classification of thumb hypoplasia. Our study agrees with the literature regarding the distribution of different types of hypoplasia of the thumb, the incidence of associated anomalies and the results of surgical treatment.

This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiological findings are described to further delineate and expand the clinical spectrum of the condition.

We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. Review of the literature and relevant databases does not identify a likely diagnosis.

Multiple congenital anomalies (MCA) in two siblings and digit abnormalities in four related individuals from a large highly inbred Muslim family are described. The pattern of MCA is consistent with the autosomal recessive Kaufman-McKusick syndrome [MIM 236700]. The present report reviews the previously published reports on this uncommon MCA dysmorphic syndrome and draws attention to the marked variation in the phenotype.

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).

A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.

Eighty-three patients with congenital constriction band syndrome were reviewed. Clinical manifestations and associated anomalies were analyzed with attention directed to distribution of the involvement. Constriction bands, amputation, and acrosyndactyly were the main clinical manifestations of this syndrome. Involvement of the distal portions of the extremity was most common. In the hand, the central digits were involved most frequently, and the thumb was only minimally affected in most cases. Of the 19 cases with an associated clubfoot deformity, 10 were proven to be a paralytic clubfoot due to compression neuropathy of the peroneal nerve caused by a deep constriction band below the knee, whereas 9 had a normal peripheral nerve.

Tibial agenesis is a congenital defect involving major anomalies of both knee and ankle joints, as well as of the adjacent musculotendinous units. A neoarthrosis at the knee joint was formed in two patients by centralizing the fibular head into the inter condylar notch. A neoarthrosis was also formed at the ankle joint by performing a talectomy and displacing the lateral malleolus over the calcaneus. This allowed independent ambulation in both patients, thus avoiding arthrodesis or amputation.

We describe a new, simple method for reconstruction of a cleft hand. Ulnar transposition of the index ray followed by creation of a thumb web space is an effective way to get sufficient abduction of the thumb. This procedure is simpler than the traditional "translocation of the flap," and also it produces no circulatory troubles to worry about.

Sixty-one sequential patients initially referred because of hand-reduction abnormalities were retrospectively reviewed. Twenty distinct diagnoses were recognized. Particularly noteworthy was the number of instances in which standard classification schemes failed to explain fully the structural or syndromic characteristics in this group of patients. One-fourth (15 of 61) of the diagnoses were of disorders resulting from abnormalities of single genes; more than one-third (21 of 61) had multiple malformation syndromes. The importance of dysmorphologic and genetic investigation of individuals with congenital reduction malformations of the hands is evident from these data and from the cases presented.

Fourteen patients with preaxial polydactyly are classified into four types according to their morphologic configuration: type 1--ray duplication; type 2--completely duplicated phalanges; type 3--incompletely duplicated metatarsals; and type 4--incompletely duplicated phalanges. The surgical treatment and timing thereof appropriate for each group are discussed. Three cases of congenital hallux varus deformity are analyzed, focusing on the pathomechanism of this disorder. Based on our experience, two main factors are noticed in the etiology of congenital hallux varus deformity: inadequacy of the adductor hallucis and tightening of the fibrous band pulling the big toe into the varus.

A total of 523 Japanese patients with terminal limb congenital malformations were reviewed for the characteristic features, and especially for type correlation between hand and foot anomalies. There were 281 cases of hand involvement alone, 149 cases of foot involvement alone, and 93 cases of combined hand and foot involvement. Polydactyly was commonly preaxial in the hand and postaxial in the foot, in contrast to the well-known postaxial dominance in the hand among whites. Hand anomalies were likely to show the same Swanson type of anomaly as the foot, with the affected digital ray likely to be identical in both hand and foot.

The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.

An infant girl, whose hands showed lobster-claw deformity, was found dead in her bed at 17 days of age. Macroscopic and microscopic examination of the lungs showed fatal atelectasis. The alveolar spaces were filled with fluid, epithelial cells, and squamous debris. These were the constituents of amniotic fluid aspirated before birth. The present case suggested that some sudden unexpected deaths in early infancy are delayed deaths caused by amniotic fluid aspiration.

Two cases of "whistling face syndrome" with the typical manifestations in the face, hands, and feet in a father and son are presented. From studying them over a 3-year period and from reviewing 46 reported cases, we conclude that (a) hand and foot deformities do not improve spontaneously with growth and better results are achieved by early surgery, (b) decreased intermaxillary distance contributed more than intercommissural distance to feeding and anesthetic difficulties in our patients, and (c) thickened and contracted joint capsules and myopathic changes are thought to form the basic pathology in this syndrome.

A very unusual hand malformation is reported in which dorsal skin and nails exist on the volar aspect of the hands. This patient also exhibits mental retardation and microcephaly as well as a partial deletion of chromosome 6. Fifty percent of a small series of patients previously reviewed who presented with chromosome 6 abnormalities demonstrated abnormalities of the hands. Unusual deformities of the hands associated with mental retardation and microcephaly may be related to an abnormality of chromosome 6.

Forty-five cases of arthrogryposis multiplex congenita were reviewed with respect to deformities and function of the hand. A distal predominance of the involvement and severity was apparent; hand deformity was a common manifestation in the arthrogrypotic patients. The majority of the hand deformities consisted of two types: one was a thumb-in-palm deformity with the fingers in intrinsic plus position, and another type was flexion contractures of the fingers at the interphalangeal joints. Regardless of type, hand function was impaired with severe or moderate deformity. Twenty-nine hands of 17 patients were successfully treated by surgery. Surgical methods are discussed based on an analysis of hand deformity and function.

Surgical procedures and the results of reconstruction of the mirror hand anomaly are presented. The thumb was reconstructed by pollicization of the radial third finger and multiple muscle transfer. The function of wrist, forearm, and elbow improved with arthroplasty of the affected joints. The results of the follow-up are satisfactory. We believe that surgical treatment of the mirror hand should be started in early life.

A case of Möbius syndrome was associated with transposition of the aorta and pulmonary artery, as well as acheiria. This combination of anomalies supports the hypothesis that Möbius syndrome is caused by an intrapartum insult during the fourth to seventh week of gestation and is consistent with the vascular theory of embryopathogenesis.

"Pacifier polydactyly" is defined in babies with a large edematous postaxial duplication attached by soft-tissue stalks that contain neurovascular elements. These serve in utero as pacifiers. Imminent ischemic necrosis was induced in all three by local trauma. Simple excision is the treatment of choice.

Experiences in several decades of doing epiphyseal transplants, as free grafts or in island flaps, are described. The long-term results are noted. Based on the latter, some specific policies for the treatment of ectrodactylic hands have been formulated.