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.
|Number of pages
|International Journal of Pediatric Otorhinolaryngology
|Published - Oct 2003
- Hearing impairment
- Split hand/split foot malformation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health