Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.
Brachydactyly* ; Extremities ; Mutation, Missense

Pseudohypoparathyroidism(PHP) is an inherited metabolic disorder characterized by hypocalcemia, hyperphosphatemia and an impaired phosphaturic response to exogenous parathormone(PTH), which are caused by end organ resistance to the action of PTH. Most of these patients have, in addition, the skeletal abnormalities of Albright hereditary osteodystrophy. We report two cases of PHP, suspicious type Ia, in sibling who were presented with multiple subcutaneous soft tissue calcification similar to that seen in tumoral calcinosis and had short stature, round face, brachydactyly and metabolic abnormalities(hypocalcemia, hyperphosphatemia, increased serum PTH, and decreased 24hr urinary basal cAMP)
Brachydactyly ; Calcinosis ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Pseudohypoparathyroidism* ; Siblings*

The treatment of a brachymetacarpia using a distraction osteogenesis was mostly single, unilateral pattern. In case of multiple brachymetacarpia, single-stage lengthening or rapid distraction lengthening with a bone graft were usually used. Multiple brachymetacarpia treated by distraction osteogenesis is rarely reported. We report a case of a 15-year-old female presented with bilateral multiple brachymetacarpia treated by distraction osteogenesis simultaneously without complications. Also, we have evaluated the clinical results and factors which influence the clinical results.
Adolescent ; Brachydactyly ; Female ; Hand Deformities ; Humans ; Osteogenesis, Distraction* ; Transplants

OBJECTIVE: To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity. METHODS: Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results. RESULTS: NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation. CONCLUSION A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
Brachydactyly ; complications ; DNA Mutational Analysis ; Humans ; Mutation ; Obesity ; complications ; Pedigree

Twenty-two skeletal lengthenings were performed on eight patients with congenital or traumatic brachydactyly between February 1983 and June 1987. There were nine metacarpal, nine metatarsal and four proximal phalangeal lengthenings. Two different methods have been used for lengthening : single stage lengthening by intercalary bone graft (19 procedures) and two stage distraction lengthening using external fixator (3 procedures). The mean follow up was 1.7 years. The mean lengthening acheived with single stage lengthening was 12.7mm and the mean overall lengthening was 13.1mm. The mean duration of fixation was 7.8 weeks in single stage lengthening and 15.3 weeks in two stage lengthening. Single stage lengthening is thought to be desirable, because it is simple and more lengthening can be acheived by double level lengthening.
Brachydactyly ; External Fixators ; Follow-Up Studies ; Humans ; Metatarsal Bones ; Transplants

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, which is characterized by poikiloderma and photosensitivity with variable features including alopecia, sparse hair, short stature, skeletal abnormalities, juvenile cataracts, and an increased risk of developing skin and bone malignancies. A 19-year-old man presented with poikilodermatous skin change on the whole body since three months old, and accompanied by photosensitivity, alopecia, and brachydactyly. As far as we know, this is the first case report of Rothmund-Thomson syndrome in Korea.
Alopecia ; Brachydactyly ; Cataract ; Hair ; Humans ; Korea ; Rothmund-Thomson Syndrome* ; Skin ; Young Adult

The hand length, foot length, middle finger length as percentage of total hand length, palm length, height, birth weight head circumference of 143 neonates of gestational ages ranging from twen-five to fourty-two weeks were measured between 12 hours and 5 days of life in order to find out normal values and correation between them. The subjects were devided into three groups of term babies with weight appropriate for gestational age, of term babies with weight light for dates and of premature babies. The following results were obtained. 1. The means, standard deviations & percentile values of hand length, foot length, palm length, middle finger length, middle finger length as percentage of total hand length in term babies(n=110) were obtained(Table 3). The sexual difference was statistically insignificant(p<0.05) in all. 2. There was a positive linear correlation between foot and hand length and other indices of anthropometric measurements in all groups. In premature babies, the correlation between foot length hadd length(r=0.79), foot length and height(r=0.64) as well as foot length and birth weight(r=0.82) were excellent. The 95percent confidence limits of the regression lines were+/-0.66cm,+/-0.66cm, and+/-374g, respectively. The birth weight and height of premature babies can theoretically be estimated from a measurement of foot length which can be performed easily and rapidly. 3. A positive linear correlation(r=0.79) between foot length and gestational age exist and the foot length of 7.0cm serves as a reliable index of prematurity. Its diagnosi bility was 0.998, 0.612. 4. The normal values of hand length, foot length, palm length, middle finger length, middle finger length as percentage of total hand length, which were obtained in this study, will be helpful to diagnose as brachydactyly or arachnodactyly.
Arachnodactyly ; Birth Weight ; Brachydactyly ; Fingers ; Foot* ; Gestational Age ; Hand* ; Head ; Humans ; Infant, Newborn* ; Parturition ; Reference Values

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.
Brachydactyly ; Cranial Fontanelles ; Cryptorchidism ; Encephalocele* ; Forearm ; Humans ; Hypertelorism ; Male ; Mouth ; Nose ; Phenotype ; Protein-Tyrosine Kinases ; Skull*

BACKGROUNDSymbrachydactyly is defined as a combination of short fingers with syndactyly. There are few published reports estimating the incidence of symbrachydactyly. The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly.

METHODSOne hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study. The sex ratio was 21 males/13 females. The age ranged from 1 year to 8 years, average 2.6 years. Four cases had both hands involved and 30 patients had one hand involvement. Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures. In the meantime, some of the associated hand deformities were treated.

RESULTSPostoperative follow-up time was 10 to 18 months, average 12 months. All the fingers involved in this study were separated successfully. However, 6 fingers had scar tissue contracture and 8 had web scar adhesion. All complications needed further surgical treatment. Parents of 94.1% of the patients were satisfied with the overall function of the hand, and 76.5% were satisfied with the cosmetic appearance of hand.

CONCLUSIONSThe combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly. Separation of the digital webs can greatly improve the function of the hand. However, more work needs to be done to improve the cosmetic appearance of the hand.

Abnormalities, Multiple ; Brachydactyly ; surgery ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Syndactyly ; surgery ; Treatment Outcome

Adult ; Brachydactyly ; genetics ; Chromosome Aberrations ; Female ; Fingers ; abnormalities ; Humans ; Male ; Pedigree