title: Siblings with glaucoma, mental retardation and short stature.
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.
authors.affiliation: Department of Paediatric Orthopaedics, Hopital d'infants, Tunis.
authors.forename: Ali
authors.initials: A
authors.lastname: AlKaissi
authors.forename: Aza
authors.initials: A
authors.lastname: Hammou
authors.forename: Maher Ben
authors.initials: MB
authors.lastname: Ghachem
authors.forename: Mohamed Nabil
authors.initials: MN
authors.lastname: Nacib
authors.forename: Farid Ben
authors.initials: FB
authors.lastname: Chehida
authors.forename: Hager
authors.initials: H
authors.lastname: Karoui
authors.forename: Michael
authors.initials: M
authors.lastname: Baraitser
mesh_terms: 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