Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 117C, Issue 1, Pages 42-48Publisher
WILEY
DOI: 10.1002/ajmg.c.10019
Keywords
Costello syndrome; autosomal dominant inheritance; malignancy; cardiomyopathy; elastic fibers; review
Categories
Ask authors/readers for more resources
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 103 patients that have been described in sufficient detail is provided. (C) 2003 whey-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available