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Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?
Author(s) -
Maldergem L.,
Wetzburger C.,
Verloes A.,
Fourneau C.,
Gillerot Y.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03622.x
Subject(s) - camptodactyly , clinodactyly , medicine , nose , anatomy , pediatrics
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.