Deletion mapping of split hand/split foot malformation with hearing impairment: a case report

Int J Pediatr Otorhinolaryngol. 2003 Oct;67(10):1127-32. doi: 10.1016/s0165-5876(03)00193-9.

Abstract

Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 7
  • Ear, Middle / abnormalities
  • Foot Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / genetics*
  • Hearing Loss / genetics*
  • Humans
  • Male