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| Reference : Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New... |
| Scientific journals : Article | |||
| Life sciences : Genetics & genetic processes | |||
| http://hdl.handle.net/2268/84797 | |||
| Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome? | |
| English | |
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. [> > > >] | |
| Jan-1992 | |
| Clinical Genetics | |
| 41 | |
| 1 | |
| 22-4 | |
| Yes (verified by ORBi) | |
| 0009-9163 | |
| [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. | |
| http://hdl.handle.net/2268/84797 |
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