Cover Image

Syndrome in question

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies...

Full description

Saved in:
Bibliographic Details
Main Authors: Isy Lima Peixoto (Author), Ana Maria Carreno (Author), Vania Mesquita Gadelha Prazeres (Author), Caroline Albuquerque Rodrigues Chirano (Author), Gabriel Maroja Ihara (Author), Patricia Bandeira de Melo Akel (Author)
Format: Book
Published: Sociedade Brasileira de Dermatologia, 2014-12-01T00:00:00Z.
Subjects:
article
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes.
Item Description:0365-0596
10.1590/abd1806-4841.20143062

Similar Items