title: A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
abstract: We report a series of eight patients with the Say/Barber/Biesecker/Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified.
authors.affiliation: Cheshire and Merseyside Genetics Service, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. drruth_day@yahoo.co.uk
authors.forename: R
authors.initials: R
authors.lastname: Day
authors.forename: B
authors.initials: B
authors.lastname: Beckett
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: M
authors.initials: M
authors.lastname: Heidenblad
authors.forename: P
authors.initials: P
authors.lastname: Howard
authors.forename: B
authors.initials: B
authors.lastname: Kerr
authors.forename: S
authors.initials: S
authors.lastname: Mansour
authors.forename: U
authors.initials: U
authors.lastname: Maye
authors.forename: S
authors.initials: S
authors.lastname: McKee
authors.forename: S
authors.initials: S
authors.lastname: Mohammed
authors.forename: E
authors.initials: E
authors.lastname: Sweeney
authors.forename: M
authors.initials: M
authors.lastname: Tassabehji
authors.forename: B B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D016569:Blepharophimosis / Q000473:pathology; D002648:Child; D015331:Cohort Studies; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis* / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000473:pathology; D010641:Phenotype; D013577:Syndrome