Article
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.
American journal of medical genetics - 1 Jan 1992
Karnes P S, Shamban A T, Olsen D R, Fazio M J, Falk R E
Abstract excerpt
Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and atheto...
Topics
- Child, Preschool
- Diagnosis, Differential
- Elastin
- Female
- Gene Expression
- Humans
- Phenotype
- Progeria
- RNA, Messenger
- Skin
- Syndrome