Crouzon syndrome with acanthosis nigricans: a case-based update
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Federico Di Rocco & Corinne Collet & Laurence Legeai-Mallet & Eric Arnaud & Martine Le Merrer & Smail Hadj-Rabia & Dominique Renier
- چاپ و سال / کشور: 2010
Description
Background Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing. Illustrative cases As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected. Discussion Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families
Childs Nerv Syst (2011) 27:349–354 DOI 10.1007/s00381-010-1347-z Received: 13 September 2010 / Accepted: 14 November 2010 / Published online: 7 December 2010
