title: Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.
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.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata Cho, Okayama, Japan. kuni@cc.okayama-u.ac.jp
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Kyoko
authors.initials: K
authors.lastname: Nagai
authors.forename: Haruyo
authors.initials: H
authors.lastname: Tsukada
authors.forename: Akemi
authors.initials: A
authors.lastname: Sugata
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sugata
authors.forename: Norio
authors.initials: N
authors.lastname: Kasai
authors.forename: Namiki
authors.initials: N
authors.lastname: Kibayashi
authors.forename: Yukihide
authors.initials: Y
authors.lastname: Maeda
authors.forename: Mehmet
authors.initials: M
authors.lastname: Gunduz
authors.forename: Kazunori
authors.initials: K
authors.lastname: Nishizaki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004432:Ear, Middle / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male