Siblings with glaucoma, mental retardation and short stature.
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.
AlKaissi
Ali
A
Department of Paediatric Orthopaedics, Hopital d'infants, Tunis.
Hammou
Aza
A
Ghachem
Maher Ben
MB
Nacib
Mohamed Nabil
MN
Chehida
Farid Ben
FB
Karoui
Hager
H
Baraitser
Michael
M
D000293:Adolescent; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007738:Kyphosis / Q000235:genetics; D008297:Male; D012600:Scoliosis / Q000235:genetics; D035781:Siblings; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities