Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?

L Van Maldergem, C Wetzburger, A Verloes… - Clinical …, 1992 - Wiley Online Library
L Van Maldergem, C Wetzburger, A Verloes, C Fourneau, Y Gillerot
Clinical genetics, 1992Wiley Online Library
Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with
blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet
1992: 41: 22–24. A syndrome involving facial abnormalities (telecanthus, epicanthus, broad
flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities
(camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental
retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan …
Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome. Clin Genet 1992:41: 22–24.
A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W‐shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan‐Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden‐Walker syndrome and Tel‐Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme pheno‐typic variant of one of the above‐mentioned syndromes.
Wiley Online Library