Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
- 1 January 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (1) , 41-43
- https://doi.org/10.1136/jmg.25.1.41
Abstract
Two sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.This publication has 4 references indexed in Scilit:
- Noonan syndrome: The changing phenotypeAmerican Journal of Medical Genetics, 1985
- Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.Archives of Disease in Childhood, 1984
- A computerised data base for the diagnosis of rare dysmorphic syndromes.Journal of Medical Genetics, 1984
- Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE associationThe Journal of Pediatrics, 1981