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 de...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2003-10, Vol.67 (10), p.1127-1132
Main Authors: Fukushima, Kunihiro, Nagai, Kyoko, Tsukada, Haruyo, Sugata, Akemi, Sugata, Kenichi, Kasai, Norio, Kibayashi, Namiki, Maeda, Yukihide, Gunduz, Mehmet, Nishizaki, Kazunori
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 7
Diseases of the osteoarticular system
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Ear, Middle - abnormalities
Foot Deformities, Congenital - genetics
Hand Deformities, Congenital - genetics
Hearing impairment
Hearing Loss - genetics
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Mapping
Medical sciences
Non tumoral diseases
Otorhinolaryngology. Stomatology
Split hand/split foot malformation
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Description
Summary: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/S0165-5876(03)00193-9