New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Am J Med Genet A
; 155A(12): 3035-41, 2011 Dec.
Article
en En
| MEDLINE
| ID: mdl-22002884
ABSTRACT
We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cerebelo
/
Genes Recesivos
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Cardiopatías Congénitas
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Microcefalia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Egipto