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

Kunihiro Fukushima, Kyoko Nagai, Haruyo Tsukada, Akemi Sugata, Kenichi Sugata, Norio Kasai, Namiki Kibayashi, Yukihide Maeda, Mehmet Gunduz, Kazunori Nishizaki

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1127-1132
Number of pages6
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume67
Issue number10
DOIs
Publication statusPublished - Oct 2003

Keywords

  • Hearing impairment
  • Mapping
  • Split hand/split foot malformation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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