title: Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.
abstract: Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.
authors.affiliation: Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia. zainsidahmed@hotmail.com
authors.forename: Mohammed Zein
authors.initials: MZ
authors.lastname: Seidahmed
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.forename: Meeralebbae
authors.initials: M
authors.lastname: Shaheed
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al Zahrani
authors.forename: Waleed
authors.initials: W
authors.lastname: Al Manea
authors.forename: Fayzeh
authors.initials: F
authors.lastname: Mansour
authors.forename: Tareq
authors.initials: T
authors.lastname: Mustafa
authors.forename: Gehan
authors.initials: G
authors.lastname: Farid
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D012529:Saudi Arabia