title: De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin.
abstract: 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 athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the elastic fibers on biopsy, we performed elastin gene expression studies on fibroblasts cultured from our patient's skin. Molecular hybridization studies revealed reduced elastin mRNA steady-state levels as compared with age matched control individuals. Assuming normal rates of mRNA translation, reduced elastin synthesis would occur. Diminished dermal elastin content could explain the altered cutaneous elasticity, decreased elastic fibers in the skin, and many clinical manifestations of individuals with this condition.
authors.affiliation: Children's Hospital Los Angeles, Division of Medical Genetics, Calif 90027.
authors.forename: P S
authors.initials: PS
authors.lastname: Karnes
authors.forename: A T
authors.initials: AT
authors.lastname: Shamban
authors.forename: D R
authors.initials: DR
authors.lastname: Olsen
authors.forename: M J
authors.initials: MJ
authors.lastname: Fazio
authors.forename: R E
authors.initials: RE
authors.lastname: Falk
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D004549:Elastin / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology; D013577:Syndrome
chemical_list: D012333:RNA, Messenger; D004549:Elastin