Blepharophimosis-intellectual disability syndrome, Ohdo type

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 2

                       


(per page)
PMID (PMCID)
26338144
 MALE Infant
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
Am J Med Genet A. 2015;167A(12):3180-5.
The siblings share some features of Ohdo syndrome, including feeding difficulties, microcephaly, and speech delay.
7519949
 FEMALE Infant
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.
Melnyk AR.
Clin Dysmorphol. 1994;3(2):121-4.
This report describes a child with the Ohdo syndrome who, in addition, has microcephaly and growth retardation.