title: Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
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.
authors.affiliation: Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: Maha S
authors.initials: MS
authors.lastname: Zaki
authors.affiliation: Division of Child Neurology, Faculty of Medicine, Department of Pediatrics, The University of Jordan, Amman, Jordan.
authors.forename: Amira
authors.initials: A
authors.lastname: Masri
authors.affiliation: Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.
authors.forename: Anne
authors.initials: A
authors.lastname: Gregor
authors.affiliation: Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
authors.affiliation: Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.
authors.forename: Rasim Ozgur
authors.initials: RO
authors.lastname: Rosti
mesh_terms: D002675:Child, Preschool; D003616:Dandy-Walker Syndrome / Q000150:complications*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010375:Pedigree; D014564:Urogenital Abnormalities / Q000150:complications*
keywords: Dandy-Walker malformation; autosomal recessive; cerebello-genital syndrome; extremity abnormalities; genitourinary abnormalities