Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
Am J Med Genet A
; 167A(11): 2503-2507, 2015 Nov.
Article
en En
| MEDLINE
| ID: mdl-26109232
ABSTRACT
We report on two families, each with documented consanguinity and two affected with overlapping features of Dandy-Walker malformation, genitourinary abnormalities, intellectual disability, and hearing deficit. This phenotype shares similar findings with many well-known syndromes. However, the clinical findings of this syndrome categorize this as a new syndrome as compared with the phenotype of already established syndromes. Due to parental consanguinity, occurrence in siblings of both genders and the absence of manifestations in obligate carrier parents, an autosomal recessive pattern of inheritance is more likely. The authors believe that these families suggest a novel autosomal recessive cerebello-genital syndrome. Array CGH analyses of an affected did not show pathological deletions or duplications.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Urogenitales
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Síndrome de Dandy-Walker
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Discapacidad Intelectual
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Año:
2015
Tipo del documento:
Article