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 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.
Day
R
R
Cheshire and Merseyside Genetics Service, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. drruth_day@yahoo.co.uk
Beckett
B
B
Donnai
D
D
Fryer
A
A
Heidenblad
M
M
Howard
P
P
Kerr
B
B
Mansour
S
S
Maye
U
U
McKee
S
S
Mohammed
S
S
Sweeney
E
E
Tassabehji
M
M
de Vries
B B A
BB
Clayton-Smith
J
J
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