Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.
Clin Dysmorphol
; 12(1): 55-8, 2003 Jan.
Article
en En
| MEDLINE
| ID: mdl-12514367
ABSTRACT
We report a pair of siblings who exhibit findings similar to those described in Heimler's syndrome, namely sensori- neural hearing loss diagnosed after the first year of life and enamel hypoplasia with normal primary dentition. Nail findings of Beau's lines and leukonychia which were described in the previous cases are absent to questionable in our patients. Our findings support the theory of autosomal recessive inheritance for Heimler's syndrome. To our knowledge there have been only three cases reported previously and the gene location has yet to be determined.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Esmalte Dental
/
Pérdida Auditiva Sensorineural
/
Uñas Malformadas
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Estados Unidos