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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
Day, R, Beckett, B, Donnai, D, Fryer, A, Heidenblad, M, Howard, P, Kerr, B, Mansour, S, Maye, U, McKee, S, Mohammed, S, Sweeney, E, Tassabehji, M, de Vries, B, Clayton-Smith, J
Clin Genet. 2008;74( 5):434-44.
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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.
Keyword(s)
Adolescent; Child; Cohort Studies; Cytogenetic Analysis; Diagnosis, Differential; Humans; Phenotype; Syndrome; diagnosis: Abnormalities, Multiple; diagnosis: Learning Disorders; pathology: Blepharophimosis; pathology: Developmental Disabilities; pathology: Limb Deformities, Congenital