Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.
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.
Fukushima
Kunihiro
K
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
Nagai
Kyoko
K
Tsukada
Haruyo
H
Sugata
Akemi
A
Sugata
Kenichi
K
Kasai
Norio
N
Kibayashi
Namiki
N
Maeda
Yukihide
Y
Gunduz
Mehmet
M
Nishizaki
Kazunori
K
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