A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation.
A boy with brachycephaly without craniosynostosis, raised intracranial pressure, deafness, cataracts, and global developmental delay is described.
Suthers
G K
GK
Molecular Genetics Group, John Radcliffe Hospital, Oxford, UK.
Earley
A E
AE
Huson
S M
SM
D002386:Cataract / Q000151:congenital*; D003638:Deafness / Q000151:congenital*; D002658:Developmental Disabilities; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome