Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.

We have examined a large family in which eleven members have a form of autosomal dominant Ehlers-Danlos syndrome type IV. Analysis of fibroblast cultures from affected individuals showed a partial deficiency of type III collagen production. The protein produced was, however, normal in all aspects examined.

Association of multiple intracranial aneurysms and collagen type III deficiency.

The results of a collagen assay performed on cultured skin fibroblasts from a 55-year-old man with multiple cerebral aneurysms are presented. Estimation of the collagen type III production by gel electrophoresis and scanning densitometry shows a reduction of collagen type III levels to 5% of normal. These findings point to the presence of a constitutional connective tissue disorder related to Ehlers-Danlos Syndrome type IV.

Familial meningioma. Case report with cytogenetic study.

A family is presented of which two members were shown to have an intracranial meningioma. We performed a chromosome study in the affected living individual and several other relatives, with special attention for chromosome 22 anomalies. In neither of them a chromosomal abnormality could be detected.

Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.

Ehlers-Danlos syndrome (EDS) type I was diagnosed in an 18-year-old girl on the basis of marked skin hyperextensibility with generalized loose-jointedness, pigmented paper-tissue scars, and a pronounced tendency to bruising. Her father and one of her sisters showed a similar phenotype. Her mother was normal.

Pulse wave velocity recordings in a family with ecchymotic Ehlers-Danlos syndrome.

Pulse Wave Velocity (P.W.V.

Unusual familial manifestation of Ehlers-Danlos syndrome.

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.