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Siblings with glaucoma, mental retardation and short stature.
AlKaissi, Ali; Hammou, Aza; Ghachem, Maher Ben; Nacib, Mohamed Nabil; Chehida, Farid Ben; Karoui, Hager; Baraitser, Michael.
Clin Dysmorphol ; 12(3): 191-4, 2003 Jul.
Article in English | MEDLINE | ID: mdl-14564159

ABSTRACT

We report a sibling pair, whose parents are distantly related, with congenital glaucoma and mental retardation. There are similarities to ter Haar syndrome, but severe mental retardation has not been described previously in that condition.


Subject(s)
Glaucoma/genetics , Intellectual Disability/genetics , Adolescent , Body Height , Bone and Bones/abnormalities , Face/abnormalities , Female , Glaucoma/congenital , Humans , Kyphosis/genetics , Male , Scoliosis/genetics , Siblings , Syndrome , Uterus/abnormalities
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