A case of onycotricodysplasia with intellectual disability, without neutropenia.
Genet Couns
; 23(3): 389-92, 2012.
Article
en En
| MEDLINE
| ID: mdl-23072187
ABSTRACT
Onychotrichodysplasia, a rare autosomal recessive disorder, presents with hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation. Here, we describe a rare presentation of a child with onycotrichodysplasia associated with intellectual disability, but without neutropenia. He had sparse, short, dry, curly hair, dysplastic nails and intellectual disability. In contrast to cases described earlier, our patient had normal neutrophil count.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Discapacidad Intelectual
/
Uñas Malformadas
/
Neutropenia
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Turquía