Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? |
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Authors: | L. van Maldergem C. Wetzburger A. Verloes C. Fourneau Y. Gillerot |
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Affiliation: | Department of Medical Genetics, Institut de Morphologie Pathologique, Liège, Belgium. |
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Abstract: | 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. |
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Keywords: | blepharophimosis camptodactyly MCA/MR |
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