Costello syndrome: an overview.
The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomata, especially around the mouth, and have a predisposition for malignancies (mainly abdominal and pelvic rhabdomyosarcoma in childhood). Costello syndrome is likely to be an autosomal dominant disorder. The pathogenesis is unclear, but there are many clues for a disturbed elastogenesis, possibly through a disturbed elastin-binding protein reuse by chondroitin sulfate-bearing proteoglycans accumulation. A review of the findings in the 73 patients that have been described in sufficient detail is provided.
Hennekam
Raoul C M
RC
Department of Pediatrics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands. r.c.hennekam@amc.uva.nl
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome