ABSTRACT
Split-hand/split-foot malformation (SHFM) is a rare congenital malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of nonsyndromic form of ectrodactyly because of its rarity.
ABSTRACT
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
Subject(s)
Child , Foot Deformities, Congenital/diagnosis , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/therapy , Genetic Counseling , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/therapy , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/therapy , Humans , Male , Prenatal Diagnosis , Syndactyly/geneticsABSTRACT
Split hand split foot malformation (SHFM) is a human developmental disorder characterized by a deep median cleft in the hands and feet, missing digits, and fusion of the remaining digits. The disease itself is considered to be very rare, affecting one out of 90,000 newborn babies. SHFM is genetically heterogeneous. To date, five SHFM loci have been mapped, to chromosome 2, 3, 7, 10 and X, respectively. We experienced a case of SHFM in a male neonate who had lobster-claw deformities of the hands and feet. The karyotype of his chromosome was 46,XY,inv (9) (p12q13). We report the case with the review of the associated literatures.