J Genet Med.  2015 Dec;12(2):123-127. 10.5734/JGM.2015.12.2.123.

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

Affiliations
  • 1Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea. gnuhobgy@gmail.com
  • 2Institute of Health Science, Gyeongsang National University School of Medicine, Jinju, Korea.

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.

Keyword

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