[Connatal ptosis: a symptom of the syndrome of multiple pterygium and arthrogryposes].
Report on a 56-year-old female exhibiting features of the multiple pterygium syndrome, e.g., puffiness and ptosis of the upper lids, hypertelorism, pterygium of the metacarpophalangeal joints, hypomobility of joints, short stature, obviously inherited as an autosomal recessive trait. In differential diagnosis distal arthrogryposis has to be considered. It is not known whether the intravitreous hemorrhage from which this patient suffered is associated with the disorder.
D001176:Arthrogryposis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002387:Cataract Extraction; D004596:Electroretinography; D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011625:Pterygium / Q000235:genetics*; D013577:Syndrome
Konnatale Ptosis: Ein Kennzeichen für das Syndrom der multiplen Pterygien und für Arthrogryposen.