Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
J Pediatr
; 136(3): 390-3, 2000 Mar.
Article
em En
| MEDLINE
| ID: mdl-10700698
ABSTRACT
X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pancitopenia
/
Cerebelo
/
Disceratose Congênita
/
Retardo do Crescimento Fetal
/
Deficiência Intelectual
/
Microcefalia
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Estados Unidos