Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
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.
['Zaki|Maha S|MS|', 'Masri|Amira|A|', 'Gregor|Anne|A|', 'Gleeson|Joseph G|JG|', 'Rosti|Rasim Ozgur|RO|']
D002675:Child, Preschool D003616:Dandy-Walker Syndrome D005190:Family D005260:Female D006801:Humans D007223:Infant D008607:Intellectual Disability D008297:Male D010375:Pedigree D014564:Urogenital Abnormalities
Dandy-Walker malformation genitourinary abnormalities autosomal recessive cerebello-genital syndrome extremity abnormalities