Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?
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 phenotypic variant of one of the above-mentioned syndromes.
van Maldergem
L
L
Department of Medical Genetics, Institut de Morphologie Pathologique, Liège, Belgium.
Wetzburger
C
C
Verloes
A
A
Fourneau
C
C
Gillerot
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome