Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.
Int J Pediatr Otorhinolaryngol
; 67(10): 1127-32, 2003 Oct.
Article
em En
| MEDLINE
| ID: mdl-14550969
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas do Pé
/
Deformidades Congênitas da Mão
/
Mapeamento Cromossômico
/
Perda Auditiva
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article