For hand surgeons, the treatment of children with congenital differences of the upper extremity is challenging because of the diverse spectrum of conditions encountered, but the task is also rewarding because it provides surgeons with the opportunity to impact a child's growth and development. An ideal classification of congenital differences of the upper extremity would reflect the full spectrum of morphologic abnormalities and encompass etiology, a guide to treatment, and provide prognoses. In this report, I review current classification systems and discuss their contradictions and limitations. In addition, I present a modified classification system and provide treatment principles. As our understanding of the etiology of congenital differences of the upper extremity increases and as experience of treating difficult cases accumulates, even an ideal classification system and optimal treatment strategies will undoubtedly continue to evolve.
Hand Deformities, Congenital/*classification/pathology/*surgery ; Humans

Child ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Male ; Pedigree

OBJECTIVE: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation. RESULTS: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes. CONCLUSION Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
China ; DNA Copy Number Variations/genetics* ; Foot Deformities, Congenital/genetics* ; Hand Deformities, Congenital/genetics* ; Humans ; Pedigree

OBJECTIVE: To determine the usefulness of Jebsen hand function test in rheumatoid arthritis patients. METHOD: The experimental subjects were divided into 3 groups (Group 1 : 17 persons; control, Group 2 : 21 persons; RA without hand deformity, Group 3 : 16 persons; RA with hand deformity). They were assessed by Jebsen hand function test. Further included assessments were grip and pinch strength, joint deformity counts, and visual analogue scales. RESULTS: Jebsen hand function test scores were significantly decreased in rheumatoid arthritis patients compared with control. Jebsen hand function test scores were well correlated with visual analogue scales in group 2 and correlated with joint deformity counts in group 3. CONCLUSIONS: Jebsen hand function test would be useful tool for the evaluation of hand function in the rheumatoid arthritis patients with hand deformity.
Arthritis, Rheumatoid* ; Congenital Abnormalities ; Hand Deformities ; Hand Strength ; Hand* ; Humans ; Joints ; Pinch Strength ; Weights and Measures

OBJECTIVE: To determine the usefulness of hand grip and pinch strength in rheumatoid arthritis (RA) patients. METHOD: The experimental subjects were divided into 3 groups (Group 1: 100 persons; control, Group 2: 100 persons; RA without hand deformity, Group 3: 100 persons; RA with hand deformity). They were assessed with using the Modified Barthel Index (MBI), evaluating the activity of daily living (ADL). A JAMAR Hand Dynamometer(R), JAMAR Hydraulic Pinch Gauge(R) (Sammons Preston Rolyan, Ilinois, USA) were used to measure grip and pinch strength. Further assessments included joint deformity counts, and visual analogue scales. RESULTS: The grip and pinch strength significantly decreased in all groups. The total MBI with other groups significantly decreased in RA patients with hand deformity (group 3). The MBI correlated well with visual analogue scales in group 2 and with joint deformity counts in group 3. CONCLUSION: Hand grip and pinch strength tests would be a useful tool for the evaluation of hand function in rheumatoid arthritis patients.
Arthritis, Rheumatoid ; Congenital Abnormalities ; Hand ; Hand Deformities ; Hand Strength ; Humans ; Joints ; Pinch Strength ; Weights and Measures

OBJECTIVETo explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).

METHODSPeripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.

RESULTSMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.

CONCLUSIONThe genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.

Chromosomes, Human, Pair 10 ; genetics ; Female ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Mutation ; genetics ; Pedigree

Adult ; Female ; Foot Deformities, Congenital ; diagnosis ; genetics ; Hand Deformities, Congenital ; diagnosis ; genetics ; Humans ; Male ; Pedigree ; Young Adult

Adult ; Aged ; Contracture ; congenital ; genetics ; Fingers ; abnormalities ; Hand Deformities, Congenital ; genetics ; Humans ; Male ; Middle Aged ; Pedigree

PURPOSE: Hexadactyly without thumb is a rare congenital anomaly of the hand where six triphalangeal digits are symmetrically distributed without thumb. Contrary to mirror hands, triphalangeal six digits are symmetrically distributed on each side at the midline with well-differentiated carpal bones, extensor tendons, one ulna and one radius. The authors developed a new surgical technique based on a three-dimensional concept to correct the hexadactyly and applied to 2 cases of hexadactyly with good functional and aesthetic results. Here we document the surgical technique and its result. METHODS: A 16 month old male patient visited our clinic with chief complaints of bilateral hexadactyly deformity. On physical examination most radial first and second digits showed no opposition and adduction motion on both side hands. Radiography showed 6 triphalangeal digits with normal development of carpal, radial and ulnar bone. Right side abnormality was corrected by removal of most radial side extra-digit, rotation and migration of 2nd ray to thumb position and creation of 1st web by transposing a mid-palm based rectangular palmar flap as in Snow & Littler procedure which has been being applied for correction of 1st web syndactyly in cleft hand deformity. Seven months later, left side abnormality was also corrected with the same procedure. RESULTS: Postoperative appearances of the both hands were satisfactory. Flexion, extension, opposition and grasping were possible with the pollicized 2nd ray. Pinching power was 3.0kg 15 months after the surgery and 2.5kg 22 months after in right hand respectively. CONCLUSION: In correction of hexadactyly deformity, satisfactory aesthetic and relevant functional results can be expected with authors' newly developed technique: removal of most radial digit, rotation and migration of 2nd digit to thumb position as well as creation of the 1st web space by transposition of mid-palm based rectangular flap.
Carpal Bones ; Congenital Abnormalities ; Hand ; Hand Deformities ; Hand Strength ; Humans ; Male ; Physical Examination ; Radius ; Snow ; Syndactyly ; Tendons ; Thumb ; Ulna

Radial longitudinal deficiency, also known as radial club hand, is a congenital deformity of the upper extremity which can present with a spectrum of upper limb deficiencies. The typical hand and forearm deformity in such cases consists of significant forearm shortening, radial deviation of the wrist and hypoplasia or absence of a thumb. Treatment goals focus on the creation of stable centralized and functionally hand, maintenance of a mobile and stable wrist and preservation of longitudinal forearm growth. Historically centralization procedures have been the most common treatment method for this condition; unfortunately centralization procedures are associated with a high recurrence rate and have the potential for injury to the distal ulnar physis resulting in a further decrease in forearm growth. Here we advocate for the use of a vascularized second metatarsophalangeal joint transfer for stabilization of the carpus and prevention of recurrent radial deformity and subluxation of the wrist. This technique was originally described by the senior author in 1992 and he has subsequently been performed in 24 cases with an average of 11-year follow-up. In this paper we present an overview of the technique and review the expected outcomes for this method of treatment of radial longitudinal deficiency.
Forearm/abnormalities/*surgery ; Hand Deformities, Congenital/*surgery ; Humans ; Joints/*transplantation ; Metatarsophalangeal Joint/surgery ; Radius/abnormalities/*surgery