Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
Baraitser
M
M
Hospital for Sick Children, London.
Winter
R M
RM
D000015:Abnormalities, Multiple; D001763:Blepharoptosis / Q000235:genetics*; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D008297:Male; D013577:Syndrome