|Reference : Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New...|
|Scientific journals : Article|
|Life sciences : Genetics & genetic processes|
|Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?|
|Van Maldergem, Lionel [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]|
|Wetzburger, C. [> > > >]|
|Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]|
|Fourneau, C. [> > > >]|
|Gillerot, Y. [> > > >]|
|Yes (verified by ORBi)|
|[en] 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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