Unusual familial manifestation of Ehlers-Danlos syndrome.

Abstract

1) A three generations family (44 live born individuals) was investigated concerning the occurrence of Ehlers-Danlos syndrome type IV. 2) Diagnosis was established with clinical data on skin bruisability, bleeding diathesis and ligamentary laxity, especially of the small joints. A striking feature was congenital clubfeet in 7 of 12 affected patients and in one premature baby that lived only 2 days. In 2 of 3 relatives who died abruptly with clinical signs of abdominal bleeding, autopsy demonstrated a ruptured right arteria iliaca communis. 3) Pulse wave velocity was decreased in severely affected patients and normal in mildly affected and in unaffected relatives. Lowered pulse wave velocity apparently objectivates the increased arterial wall distensibility of affected patients. 4) The occurrence of the syndrome amongst the children and grandchildren of one single affected ancestor yields ample evidence for autosomal dominant transmission in this family. 5) Collagen typing and ultrastructural examination were not performed as consent for skin biopsy was not obtained. 6) Further clinical investigation is going on to find out whether miscellaneous signs of abnormal connective tissue in eyes, ears, teeth and palmar fascia are inherent to the observed syndrome or not.