Syndrome in question
An. bras. dermatol
;
89(6): 1005-1006, Nov-Dec/2014. graf
Article
Dans Anglais
| LILACS
| ID: lil-727653
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Malformations cutanées
/
Syndrome de Costello
Limites du sujet:
Femelle
/
Humains
langue:
Anglais
Texte intégral:
An. bras. dermatol
Thème du journal:
Dermatologie
Année:
2014
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Amazonas Federal University/BR
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS