Journal of Genetic Medicine  2015;12(2):123-127

doi:10.5734/JGM.2015.12.2.123

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report.

In Ae CHO 1 ; Ji Kwon PARK ; Jong Chul BAEK ; A Na HA ; Min Young KANG ; Jae Ik LEE ; Ji Eun PARK ; Jeong Kyu SHIN ; Won Jun CHOI ; Soon Ae LEE ; Jong Hak LEE ; Won Young PAIK

Affiliations

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Keywords

Split-hand-foot malformation with long bone deficiency; 17p13.3; BHLHA9; Comparative genomic hybridization

Country

Republic of Korea

Language

English

Abstract

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.