Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes of the disorder. A literature search in PubMed was conducted to identify cases of MDL from January 1950 to 14 February 2014. After ruling out articles without information related to the management of the disorder, a summary of 32 studies was performed. An additional three cases from the authors are also presented. Based on 57 journal articles and three additional cases from the authors, around 108 cases of MDL were reviewed. Most patients were males who were admitted to a treatment clinic in the first four years of life. The lower extremities were more frequently affected, with unilateral presentation being most common. They commonly underwent a single-staged surgical procedure with follow-up periods ranging from more than one year up to 21 years. Out of 43 cases that underwent surgical procedures, 13 reported no complications, and there were seven cases of esthetic satisfaction and 15 cases of significant functional improvement. Depending on the severity of a patient's condition, the use of non-invasive diagnostic tools should be carefully considered. Surgery might be a better choice of management than observation, taking into account possible future complications in the absence of surgery and the beneficial outcomes of surgical procedures.
Diagnosis ; Fingers ; Follow-Up Studies ; Humans ; Limb Deformities, Congenital ; Lower Extremity ; Male ; Natural History ; Upper Extremity

We describe a case of thrombocytopenia-absent radius syndrome suspected by ultrasonography, later confirmed by fetal blood analysis. From this case we confirmed the usefulness of three-dimensional ultrasonography in diagnosing abnormalities in the fetal skeletal system and genetic counseling.
Fetal Blood ; Genetic Counseling ; Prenatal Diagnosis ; Radius ; Thrombocytopenia ; Upper Extremity Deformities, Congenital

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.
Abnormalities, Multiple ; Carpal Bones ; Codon, Nonsense ; Fathers ; Genetic Testing ; Heart ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Lower Extremity Deformities, Congenital ; Upper Extremity Deformities, Congenital

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.
Abnormalities, Multiple ; Carpal Bones ; Codon, Nonsense ; Fathers ; Genetic Testing ; Heart ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Lower Extremity Deformities, Congenital ; Upper Extremity Deformities, Congenital

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