Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

  • Cho, In Ae (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Park, Ji Kwon (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Baek, Jong Chul (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Ha, A Na (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Kang, Min Young (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Lee, Jae Ik (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Park, Ji Eun (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Shin, Jeong Kyu (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Choi, Won Jun (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Lee, Soon Ae (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Lee, Jong Hak (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine) ;
  • Paik, Won Young (Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine)
  • Received : 2015.11.26
  • Accepted : 2015.12.08
  • Published : 2015.12.31
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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.

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References

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