Procollagen Peptidase Deficiency in a Form of the Ehlers-Danlos Syndrome
Abstract
The Ehlers-Danlos syndrome is a heterogeneous group of disorders which are characterized by stretchable, fragile skin and hypermobile joints. Four types are inherited in an autosomal dominant pattern and are distinguished by the clinical distribution and severity of the disease. A fifth subtype is inherited in an X-linked recessive pattern. The sixth subtype has hydroxylysine deficient collagen, due to a deficiency of the enzyme lysyl hydroxylase and is inherited in an autosomal recessive pattern. This paper is reporting on a seventh subtype of the Ehlers-Danlos syndrome found in three Caucasian females ages 3, 16 and 32 years. Similar clinical and biochemical findings were observed in all three patients. In the past this condition has been called arthrochalasis multiplex congenita.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jan 01, 1973
- Accession Number
- AD0783204
Entities
People
- George R. Martin
- Jack R. Kichtenstein
- Leonard D. Kohn
- Peter Byers
- Victor A. Mckusick
Organizations
- Armed Forces Institute of Pathology