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Representations of disease in Renaissance paintings have been discussed in medical literature, in the context of historical epidemiology, as potential sources of information about the incidence and appearance of particular conditions in earlier times. The present study seeks to show how Renaissance art can also contribute to historical nosology by casting light on the question of whether particular conditions recognized as abnormal today were understood as pathological in the past. The hands of two Renaissance Madonna figures are examined in sculptures produced by Francesco di Simone Ferrucci (1437–1493). Because the Virgin Mary was considered physically perfect by believers, and because Francesco was a successful producer of devotional sculptures for a wide audience, it is highly probable that any abnormal conditions found in the hands of Madonnas sculpted by him would not have been regarded as pathological at the time. The sculptures examined appear to depict camptodactyly and boutonniere deformity in the hands of Madonna figures. These uncommon conditions are also found in Renaissance artworks that show other individuals of high social status, but their presence in the hands of the Madonna gives the strongest indication that they were not considered pathological, due to religious belief in the Virgin's physical perfection. Examination of Madonna figures in late fifteenth century Renaissance art can contribute to historical nosology by identifying abnormal conditions that were not regarded as pathological at the time. The examples of such conditions identified in the present study are camptodactyly and boutonniere deformity. [ABSTRACT FROM AUTHOR]

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.)

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016-2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence-based guidelines in anticipation of disease-specific therapies., (© 2024 Wiley Periodicals LLC.)

Background: The aim of the study is to assess the readability of online patient education materials (PEMs) for congenital hand differences., Methods: The top 10 online, English-language PEMs for 10 conditions (polydactyly, syndactyly, trigger finger/thumb, clinodactyly, camptodactyly, symbrachydactyly, thumb hypoplasia, radial dysplasia, reduction defect, and amniotic band syndrome) were compiled and categorized by source and country. Readability was assessed using 5 tools: Flesch Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), Gunning Fog Index (GFI), Coleman-Liau Index (CLI), and Simple Measure of Gobbledygook Index (SMOG). To account for the potential effect of each condition's name in the aforementioned formulas, the analysis was repeated after replacing the name with a monosyllabic word/s., Results: The mean readability scores of the 100 PEMs were FRES 56.3, where the target was ≥80, FKGL 8.8, GFI 11.5, CLI 10.9, and SMOG 8.6, and the median grade score was 9.8, where the target grade was ≤6.9. Following adjustment, all readability scores improved significantly ( P < .001). Postadjustment scores were FRES 63.8, FKGL 7.8, GFI 10.7, CLI 9.1, and SMOG 8.0, and the median grade score was 8.6. Only 1 webpage met the target level using all tools. Two-sample t test for country of publication (the United States and the United Kingdom) demonstrated that PEMs originating from the United Kingdom were easier to read using the preadjustment CLI ( P = .009) and median grade metrics ( P = .048). A 1-way analysis of variance revealed no influence of condition or source on readability., Conclusion: Most online PEMs for congenital hand differences are written above the recommended reading level of sixth grade, even when adjusted for the effect of the condition's name., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Pathogenic variants of polycomb repressive complex-2 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of EZH2 have been identified as a cause of Weaver syndrome (WS), an overgrowth/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly, accelerated bone age, intellectual disability (ID), and characteristic facial features. Germline variants of SUZ12 and EED, other components of PRC2, have also been reported in the WS or Weaver-like syndrome. EZH1 is a homolog of EZH2 that interchangeably associates with SUZ12 and EED. Recently, pathogenic variants of EZH1 have been reported in individuals with dominant and recessive neurodevelopmental disorders. We herein present sisters with biallelic loss-of-function variants of EZH1. They showed developmental delay, ID, and central precocious puberty, but not the features of WS or other OGID syndromes., (© 2024 Wiley Periodicals LLC.)

Objective  To evaluate the outcomes of conservative treatment using static orthoses manufactured by the Occupational Therapy Sector of our institution in participants with camptodactyly types I, II, and III in their rigid or flexible forms, to describe the demographic and clinical data, and to analyze the number of dropouts during the treatment period. Methods  The Ethics in Human Research Committee approved the project under protocol number CAAE 20300419.3.0000.5273. All medical records used in the research were made available by our institution. In the present retrospective study, we did not use the informed consent form due to the impossibility of contacting the high number of participants. The study included medical records of 38 participants treated at the Occupational Therapy Outpatient Clinic from 2013 to 2019. Results  Of the 54 fingers treated with orthoses, 38 were completely corrected. The rates of correction were as follows: type I in its rigid form - 100% type I in its flexible form - 81.2%; type II in its rigid form - 0%; type II in its flexible form - 100%; type III in its rigid form - 47.6%; and type III in its flexible form - 100%. Of the 93 fingers included in this study, 42% abandoned the treatment. Conclusion  Static orthoses are a safe alternative to surgical procedures, with low execution complexity for camptodactyly treatment., Competing Interests: Conflito de Interesses Os autores não têm conflito de interesses a declarar., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit ( https://creativecommons.org/licenses/by/4.0/ ).)

Myhre syndrome is a rare genetic disease caused by recurrent gain-of-function variants in SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short stature with pseudo-muscular build, joint stiffness, variable intellectual disability, hearing loss, and a distinctive pattern of dysmorphic facial features. The course can be severe in some cases, with life-threatening cardiac and pulmonary complications caused by connective tissue involvement. These progressive features over time make early clinical diagnosis difficult but possible by astute clinicians who evaluate young children with autism or short stature and unusual appearance. Only two cases of Myhre syndrome diagnosed during the prenatal period have been reported. Here, we present a detailed description of two unrelated fetuses with Myhre syndrome, each molecularly confirmed by genome or exome sequencing, who underwent fetal examination after termination of pregnancy. One had severe intrauterine growth retardation associated with crossed fused renal ectopia, and the other one had pulmonary atresia with ventricular septal defect (a form of tetralogy of Fallot). Both had mild dysmorphic features with a wide nasofrontal angle. Our results and a systematic prenatal literature review add insight into the early natural history of Myhre syndrome and highlight the contribution of prenatal next-generation sequencing in prenatal diagnosis and the importance of fetal autopsy in Myhre syndrome., (© 2024 John Wiley & Sons Ltd.)

Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly documented in childhood and comprise variable neurocognitive development, recognizable craniofacial features, a short stature with a pseudo-muscular build, hearing loss, thickened skin, joint limitations, diverse cardiovascular and airway manifestations, and increased fibrosis often following trauma or surgery. In contrast, adults with MS are underreported obscuring potential clinical variability. Here, we describe 24 adults with MS, including 17 diagnosed after the age of 18 years old, and we review the literature on adults with MS. Overall, our cohort shows a milder phenotype as well as lower mortality rates compared to what has been published in literature. Individuals with a codon 500 variant in SMAD4 present with a more pronounced neurodevelopmental and systemic phenotype. However, in contrast to the literature, we observe cardiovascular abnormalities in individuals with the p.(Arg496Cys) variant. In addition, we describe scoliosis as a new manifestation and we report fertility in two additional males with the p.(Arg496Cys). In conclusion, our study contributes novel insights into the clinical variability of MS and underscores the importance of variant-specific considerations, and we provide recommendations for the management of MS in adulthood., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)

Genes encoding subunits of SWI/SNF (BAF) chromatin remodeling complexes are mutated in nearly 25% of cancers. To gain insight into the mechanisms by which SWI/SNF mutations drive cancer, we contributed ten rhabdoid tumor (RT) cell lines mutant for SWI/SNF subunit SMARCB1 to a genome-scale CRISPR-Cas9 depletion screen performed across 896 cell lines. We identify PHF6 as specifically essential for RT cell survival and demonstrate that dependency on Phf6 extends to Smarcb1-deficient cancers in vivo. As mutations in either SWI/SNF or PHF6 can cause the neurodevelopmental disorder Coffin-Siris syndrome, our findings of a dependency suggest a previously unrecognized functional link. We demonstrate that PHF6 co-localizes with SWI/SNF complexes at promoters, where it is essential for maintenance of an active chromatin state. We show that in the absence of SMARCB1, PHF6 loss disrupts the recruitment and stability of residual SWI/SNF complex members, collectively resulting in the loss of active chromatin at promoters and stalling of RNA Polymerase II progression. Our work establishes a mechanistic basis for the shared syndromic features of SWI/SNF and PHF6 mutations in CSS and the basis for selective dependency on PHF6 in SMARCB1-mutant cancers., (© 2024. The Author(s).)

Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). The aim of our study was to describe their prevalence and evolution from birth to adult age. We performed an observational study at the Department of Life Sciences and Public Health, Rome. Fourteen patients were included in this study (six M; mean age: 18 years; SD: 10.62 years; median age: 15 years; age range: 6-44 years); six were adults (43%). Data on oral motor abilities from birth were collected. Meal duration, presence of swallowing reflex, dysphagia symptoms, difficulty chewing, and drooling management were assessed. At birth, all patients needed enteral feeding. Introduction of solid food was postponed beyond the age of 18 months in 43% of patients. During childhood and adolescence, mealtime was characterized by increased duration (43%) accompanied by fatigue during chewing (43%), food spillage from the nasal cavities (21%), sialorrhea (86%), and poor/reduced appetite (57%). A mature rotatory chewing skill was never achieved. This report expands the phenotype description of CS/CISS1 and also improves the overall management and prevention of complications in this ultra-rare disease.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations., (© 2024. The Author(s).)

Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Pathogenic variants of the KCNH1 gene can cause dominant-inherited Temple-Baraitser/Zimmermann-Laband syndrome with severe mental retardation, seizure, gingival hyperplasia and nail hypoplasia. This study established an induced pluripotent stem cell (iPSC) line using urinary cells from a girl with KCNH1 recurrent/hotspot pathogenic variant c.1070G > A (p.R357Q). The cell identity, pluripotency, karyotypic integrity, absence of reprogramming virus and mycoplasma contamination, and differential potential to three germ layers of the iPSC line, named as ZJUCHi003, were characterized and confirmed. Furthermore, ZJUCHi003-derived neurons manifested slower action potential repolarization process and wider action potential half-width than the normal neurons. This cell line will be useful for investigating the pathogenic mechanisms of KCNH1 variants-associated symptoms, as well as for evaluating novel therapeutic approaches., (© 2024. The Author(s) under exclusive licence to Japan Human Cell Society.)

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting., Competing Interests: Declaration of competing interest The authors declare that there are no conflict of interests., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Purpose: An ideal classification system promotes communication and guides treatment for congenital upper limb differences (CULDs). The Oberg, Manske, and Tonkin (OMT) classification utilizes phenotypic presentation and knowledge of developmental biology for the classification of CULDs. In this consensus decision-making study, we hypothesized that CULDs that are difficult to classify would be identically classified by a group of experienced pediatric hand surgeons., Methods: An international consortium of 14 pediatric hand surgeons in 3 countries contributed a group of 72 difficult-to-classify CULD cases. These were identified from the clinical practices of the surgeons and from associated registries. Through a Delphi-type process, repeated efforts were made to obtain consensus for the correct OMT classification of each case utilizing clinical images and radiographs., Results: The first round of discussion yielded a universal consensus for 57 cases. The remaining 15 cases continued to be put through additional rounds of the Delphi-type process. The repeat classification and discussion resulted in a final yield of 93% complete consensus in classification by the OMT. The primary challenge in diagnosis was differentiating cleft hand from ulnar longitudinal deficiency, identified as group A. Five cases were in this group, yet 2 remained without a clear consensus. Another controversial group, group B, was termed "brachy-polydactyly" and consisted of 3 cases where diagnoses varied between sympolydactyly, symbrachydactyly, or complex syndactyly., Conclusions: The Delphi-type process was feasible and effective and allowed a 93% consensus in the diagnosis of difficult-to-classify cases by the OMT Classification. There remain limitations and controversies with the OMT system, especially when classifying hands with less than 5 skeletal digits, syndactyly, and those with diagnostic overlap between ulnar longitudinal deficiency and cleft hand and those considered "brachypolydactyly." An improved understanding of the underlying etiology may be needed to determine the final diagnosis in difficult-to-classify conditions., Clinical Relevance: A consensus-seeking approach is effective and feasible in addressing difficult-to-classify CULDs., (Copyright © 2024 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)

Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A . Pathogenic SMARCB1 gene variants cause Coffin-Siris syndrome 3 whereas pathogenic ARID1A gene variants cause Coffin-Siris syndrome 2. Here, we present two prenatal Coffin-Siris syndrome cases with autosomal dominant pathogenic variants: SMARCB1 gene c.1066&#95;1067del, p.(Leu356AspfsTer4) variant, and a novel ARID1A gene c.1920+3&#95;1920+6del variant. The prenatal phenotype in Coffin-Siris syndrome has been rarely described. This article widens the phenotypic spectrum of prenatal Coffin-Siris syndrome with severely hypoplastic right ventricle with VSD and truncus arteriosus type III, persisting left superior and inferior caval vein, bilateral olfactory nerve aplasia, and hypoplastic thymus. A detailed clinical description of the patients with ultrasound, MRI, and post mortem pictures of the affected fetuses showing the wide phenotypic spectrum of the disease is presented., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Gollop-Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by tibial aplasia with femur bifurcation, ipsilateral bifurcation of the thigh bone, and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. The genetic basis of GWC, however, has remained elusive. We studied a three-generation family with four GWC-affected family members. An analysis of whole-genome sequencing results using a custom pipeline identified the WNT11 c.1015G>A missense variant associated with the phenotype. In silico modelling and an in vitro reporter assay further supported the link between the variant and GWC. This finding further contributes to mapping the genetic heterogeneity underlying split hand/foot malformations in general and in GWC specifically.

Synaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 variants perturb synaptic vesicle endocytosis and exocytosis, resulting in a series of neurodevelopmental disorders defined as Baker-Gordon syndrome. Herein, we report the case of a newborn with dysmorphic facial appearance, severe hypotonia, poor feeding, gastroesophageal reflux, and an inability to eat and breathe, diagnosed with Baker-Gordon syndrome. A retrospective search was performed on a newborn with Baker-Gordon syndrome. Medical charts were reviewed, with focus on the clinical presentation, diagnostic process, and treatment outcomes. Whole-genome high-throughput DNA sequencing was performed to identify genetic variants. Whole-exome sequencing identified the likely pathogenic variant as SYT1 C.551 T > C(p.V184A). Sanger sequencing results indicated that this variant was a de novo mutation in a conservative site located in the C2A domain of the protein. The patient died at 57 days old because of severe feeding and breathing problems. Our findings of a novel lethal variant in the C2A domain of SYT1 in the youngest patient diagnosed infantile Baker-Gordon syndrome who presented with the most severe hypotonia reported to date expands the spectrum of SYT1- associated neurodevelopmental disorders., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective  The objective of the study was to determine the prevalence of absence of palmaris longus tendon in a population sample from a multiethnic Brazilian city. Methods  A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The absence of palmaris longus tendon was determined by asking the volunteers to perform the Schaeffer test bilaterally. Results  We prospectively collected data on 1,008 volunteers, 531 male and 477 female, with age between 18 and 74 years (mean 38.4 years). The absence of palmaris longus tendon was observed in 264 (26.2%) volunteers. Bilateral absence was detected in 123 volunteers (12.2%), 60 female (48.8%) and 63 male (51.2%). Unilateral absence was found in 141 patients (14.0%), 54 female (38.2%) and 87 male (61.8%) ( p  < 0.05). Conclusion  The prevalence of absence of palmaris longus tendon in our study was 26.2%. There was no statistically significant difference between gender and bilaterally. The absence of palmaris longus tendon was predominant on unilateral right side in males., Competing Interests: Conflito de interesses Os autores declaram não haver conflito de interesses., (Sociedade Brasileira de Ortopedia e Traumatologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Competing Interests: Declaration of conflicting interestsThe authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

In this study, we studied historical case notes to examine nomenclature of congenital upper limb anomalies and explore the changes in terminologies over time. Original diagnoses were reclassified according to previously published classifications and the most recent Oberg, Manske and Tonkin system. Two hundred and thirty-eight case notes were obtained from the period 1961-1991. Hand plate malformations where the diagnosis was obvious or traumatic defects, were excluded. Eighty-six cases (106 extremities) were finally included where an ambiguous diagnosis, such as 'congenital absence' was initially given. None of the re-classifications matched the original diagnoses except for cleft hand and radial dysplasia ( n  = 31). Eighteen phocomelia-type limbs were re-classifiable when seen as a continuum of longitudinal deficiency, but not as an intercalary deficit. This study provided further insights into the evolving nature of nomenclature in congenital upper limb anomalies, especially for the condition of phocomelia. Level of evidence: IV., Competing Interests: Declaration of conflicting interestsThe authors declare no potential conflicts of with respect to the research, authorship, and/or publication of this article.

➤ The Oberg-Manske-Tonkin (OMT) classification of congenital hand and upper-limb anomalies continues to be refined as our understanding of the genetic and embryonic etiology of limb anomalies improves.➤ We have conducted an evaluation of graft and graftless techniques for syndactyly reconstruction; strengths and drawbacks exist for each technique.➤ Treatment for radial longitudinal deficiency remains controversial; however, radialization has shown promise in early follow-up for severe deformities.➤ Recent emphasis on psychosocial aspects of care has demonstrated that children with congenital upper-limb differences demonstrate good peer relationships and marked adaptability., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article ( http://links.lww.com/JBJS/H658 )., (Copyright © 2023 by The Journal of Bone and Joint Surgery, Incorporated.)