Congenital deformity of the hand

BACKGROUND: Several skeletal maturity systems allow for accurate skeletal age assessment from a wide variety of joints. However, discrepancies in estimates have been noted when applying systems concurrently. The aims of our study were to (1) compare the agreement among 8 different skeletal maturity systems in modern pediatric patients and (2) compare these discrepancy trends qbetween modern and historic children. METHODS: We performed a retrospective (January 2000 to May 2022) query of our picture archiving and communication systems and included peripubertal patients who had at least two radiographs of different anatomic regions obtained ≤3 months apart for 8 systems: (1) proximal humerus ossification system (PHOS), (2) olecranon apophysis ossification staging system (OAOSS), (3) lateral elbow system, (4) modified Fels wrist system, (5) Sanders Hand Classification, (6) optimized oxford hip system, (7) modified Fels knee system, and (8) calcaneal apophysis ossification staging system (CAOSS)...

Congenital muscular hypertrophy is a rare overgrowth disorder in the phosphatidylinositol-3-kinase related spectrum. In the past 3 years, ten patients with 11 limbs involved were treated in our centre. The aim of the study was to describe the clinical and radiological deformities of these patients. We documented the characteristic clinical morphological changes, such as hypertrophy, loss of wrist flexion, thumb hyperabduction, finger deviation and skin crease changes in the palm. Radiologically, the mean first metacarpal radial deviation angle of the affected side measured 55° (range 34 to 67) compared to the normal contralateral side 42° (range 32 to 53)...

Background: Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. Case report: We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum...

Congenital hand and forearm anomalies pose a unique challenge in plastic and pediatric surgery. We present a case report of an 8-months-old girl with a congenital left sided hand and forearm anomaly, provisionally diagnosed as atypical left mirror hand anomaly. Classically there is absence of radius and duplication of ulna; however, our case had normal radius and ulna and a hand with seven digits arranged in two groups. We did a surgery which involved a ray amputation of the finger ulnar to the most radial digit, aiming to preserve an adequate first web space to reconstruct the thumb...

Macrodystrophia lipomatosa (MDL) is a rare congenital variant of focused gigantism that is non-hereditary. Typically, MDL presents with localized gigantism in either the hand or foot. In this case report, we present the unique instance of a 12-year-old girl who has experienced enlargement of the first and second toes on her right foot since birth. Plain radiographs and MRI findings revealed the accumulation of fatty tissue around the first and second toes, medial and lateral aspects of the first metatarsal, extending up to the medial plantar arch of the foot...

Introduction Loss of radius either due to trauma or infection results in a deformity resembling a congenital radial club hand. This deformity results in difficulty to perform hand functions and cosmetic appearance and is called acquired radial club hand. There are a few case reports for the treatment of this severe deformity, but there are no proper guidelines for the management of this disease. From our experience, we decided to provide treatment guidelines for acquired radial club hand. Objectives To evaluate the outcome of radial deformity treatment in acquired radial club hand injuries and develop a treatment algorithm...

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)...

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of rare diseases due to mutations in neuromuscular junction (NMJ) protein-coding genes. Until now, many mutations encoding postsynaptic proteins as Agrin, MuSK and LRP4 have been identified as responsible for increasingly complex CMS phenotypes. The majority of mutations identified in LRP4 gene causes bone diseases including CLS and sclerosteosis-2 and rare cases of CMS with mutations in LRP4 gene has been described so far...

➤ 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...

Symbrachydactyly is a complex and rare congenital hand deformity characterized by missing or underdeveloped fingers and rudimentary digit nubbins. This case report focuses on a newborn female with type 3A symbrachydactyly, highlighting the unique clinical presentation, diagnostic assessment, and initial management approach. The rarity of this condition underscores the need for sharing cases to enhance understanding and treatment strategies. Various classification systems exist, contributing to the challenge of accurately categorizing symbrachydactyly...

BACKGROUND: Current tools for evaluating hand and upper limb function in children do not represent all domains of the World Health Organization International Classification of Disability, Functioning and Health (ICF) framework and may not capture an accurate progression or regression of function over time. PURPOSE: Based on this framework, we have developed an assessment tool (Reach Out) to evaluate function in children aged from 2 to 16 years following consultation with an advisory panel of specialists...

PURPOSE: This study aimed to investigate the relative frequency of congenital upper-limb anomalies (CULAs) in southern Taiwan using the 2020-updated the Oberg, Manske, and Tonkin (OMT) classification system and evaluate the practicality of the new classification system. METHODS: We retrospectively reviewed patients with CULAs from 1987 to 2021 at a referral center in southern Taiwan. All patients were analyzed based on medical records, photographs, and radiographs, and the anomalies were classified according to the 2020 OMT classification system...

Synostosis is a generic term to indicate the union of two originally separated bones. At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function. It is estimated that, to date, a little more than 150 patients have been described with this deformity, which is more common in subjects with deficient ulnar formation or affected by conditions such as Antley-Bixler and Hermann syndromes...

Congenital upper extremity anomalies are common, with an incidence of 27.2 per 10,000 births.1 This case series highlights patients with delayed presentation of congenital hand anomalies due to breakdowns in referral to pediatric hand surgery. A retrospective review of patients with congenital hand anomalies with delayed presentation to the University of Mississippi Medical Center Congenital Hand Center was performed, and 3 patients were included. Delays in care result from a variety of missteps for patients and parents navigating the health system...

INTRODUCTION: Authors report a rare case report about split hand and foot malformation (SHFM) also sometimes referred to as ectrodactyly. CASE REPORT: The patient with hand and foot malformations presented to casualty. A 60-year-old male was brought with alleged history of road traffic accident with tenderness and deformity in left thigh. On further physical examination, a malformation was present in bilateral feet and right hand. Plain radiographs were taken after emergency primary management which revealed a fracture of shaft of femur of the left side and absence of 2nd and 3rd phalanges in bilateral feet and lobster claw like malformation in the right hand...

Background: Congenital constriction ring syndrome (CCRS) is a rare condition diagnosed at birth characterised by deformation due to a constriction ring. The usual treatment for CCRS involves excision of the constriction ring and suture of the skin incorporating a Z-plasty to prevent scar contracture. A Z-plasty often results in an unsightly scar. In order to avoid this, we performed linear circumferential skin closure (LCSC). The aim of this paper is to report the outcomes of LCSC for CCRS. Methods: We retrospectively investigated all patients with CCRS who underwent LCSC between 2002 and 2020...

INTRODUCTION: Despite several techniques for corrective osteotomy in congenital radioulnar synostosis (CRUS) the published literature lacks a guide for radiographic planning and rationale for the site and level of the osteotomy. The primary objective of this study is to report a technique of radiographically controlled corrective osteotomy using the axis of rotation of the forearm in CRUS. MATERIALS AND METHODS: Children with CRUS underwent corrective osteotomy based on radiographic planning; the extent of rotational correction and functional outcomes were assessed at a mean of 27 months after the operation...

Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal dysplasia consisting of acro-osteolysis. Mutation in Matrix Metalloproteinase 2 (MMP2), Matrix Metalloproteinase 14 (MMP14) and SH3PXD2B are known genetic defects in these disorders. We hereby report a 5 years and 9 months old girl suffering from progressive limb deformity. She is the first child of a relative couple, who was referred to metabolic disorders' clinic due to poor growth and bone pain...

Syndactyly is one of the most common congenital upper extremity deformities. Syndactyly can be described as either simple, involving just the skin and soft tissue, or complex, involving the phalanges. Additionally, syndactyly can be categorized as complete, involving the entire digit (including the nail fold), or incomplete, which does not involve the nail fold. Multiple familial or spontaneous genetic abnormalities can cause syndactyly, and these mutations typically involve the canonical wingless-type (WNT) pathway...

Poland syndrome is a congenital anomaly with two clinical features: unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. We report a rare case of bilateral Poland syndrome with several unique features. Poland syndrome is thought to be due to a vascular insult to the subclavian axis around the sixth week of gestation. Our patient has multiple rare and unique features of Poland syndrome. For the first time in the literature, we associate Poland syndrome with cone-shaped epiphysis of the metacarpals of all fingers...