1.
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
2.
Clin Dysmorphol
; 11(3): 175-8, 2002 Jul.
Article
in English
| MEDLINE
| ID: mdl-12072795
ABSTRACT
We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.