A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

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 syndr...

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Bibliographic Details
Published in:Clinical genetics 2008-11, Vol.74 (5), p.434-444
Main Authors: 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, BBA, Clayton-Smith, J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adolescent
Biological and medical sciences
blepharophimosis
Blepharophimosis - pathology
Child
Cohort Studies
Cytogenetic Analysis
developmental delay
Developmental Disabilities - pathology
Diagnosis, Differential
Diseases of eyelid, conjunctiva and lacrimal tracts
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic disorders
Genetics of eukaryotes. Biological and molecular evolution
Humans
Learning Disorders - diagnosis
Learning Disorders - genetics
Limb Deformities, Congenital - pathology
Medical genetics
Medical sciences
Molecular and cellular biology
Ohdo syndrome
Ophthalmology
Phenotype
Syndrome
Young-Simpson syndrome
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2008.01087.x