Blepharo-fazio-skeletal Syndrom

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Krankheitsbeschreibung

A dysmorphic syndrome was described only once in a mother and her daughter, It is likely to be of autosomal dominant inheritance and includes blepharophimosis, hypotelorism, upslanting palpebral fissures, malar hypoplasia, small oral aperture with thin lips, long tapered fingers with clinodactyly. Intelligence was normal. The daughter had a slightly more severe phenotype with short stature (3rd percentile), hip dislocation, convergent strabismus, posterior rotated ears, and a cleft palate, to which a hypoplastic uvula in the mother might be related.
Quelle: Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1997. Available on http://www.orpha.net. Accessed 07.04.2014

Orofaziale Manifestation

Lippen-Kiefer-Gaumenspalte, Mikrostomie

Literatur

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