Blepharo-nasofaziale-Malformation-Syndrom

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Krankheitsbeschreibung

A dysmorphic syndrome was described in two families with several affected members of both sexes at different generations, but because of no observed male-to-male transmission, the inheritance might be either autosomal or X-linked dominant. Clinical features include tecanthus, lateral displacement of the lacrimal puncta, lacrimal excretory obstruction, bulky nose and broad nasal bridge, masklike facies with weakness of facial muscles, trapezoidal upper lip and joint hyperlaxity. Neurological examination showed positif Babinsly sign with exaggerated reflexes, torsion dystonia, and mental retardation. In a few of the affected individuals longitudinal cheek furrows and cutaneous syndactyly of fingers were also reported. In one patient were described deafness and heterochromia iridum, while his daughter had a white forelock ; it was not possible to perform molecular studies to exclude the diagnosis of Waardenburg syndrome.
Quelle: Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1997. Available on http://www.orpha.net. Accessed 15.10.2013

Orofaziale Manifestation

Lippenanomalie

Literatur

  • Stoll, C., Terzic, J., Fischbach, M.A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.Genet. Counsel. 10: 337-343, 1999. http://www.ncbi.nlm.nih.gov/pubmed/10631920

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