Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report.
10.5734/JGM.2015.12.2.123
- Author:
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
Author Information
1. Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea. gnuhobgy@gmail.com
- Publication Type:Case Report
- Keywords:
Split-hand-foot malformation with long bone deficiency;
17p13.3;
BHLHA9;
Comparative genomic hybridization
- MeSH:
Comparative Genomic Hybridization;
Congenital Abnormalities;
Extremities;
Femur;
Fibula;
Foot;
Genetic Heterogeneity;
Hand;
Prenatal Diagnosis*
- From:Journal of Genetic Medicine
2015;12(2):123-127
- CountryRepublic 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.
