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: Ali AlKaissi, Aza Hammou, Maher Ben Ghachem, Mohamed Nabil Nacib, Farid Ben Chehida, Hager Karoui, Michael Baraitser
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 12 Issue 3 Pg. 191-4 (Jul 2003) ISSN: 0962-8827 [Print] England
• PMID: 14564159 (Publication Type: Case Reports, Journal Article)

Topics

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