Cardiofaciocutaneous syndrome with new ectodermal manifestations.
AUTOR(ES)
Turnpenny, P D
RESUMO
We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015998Documentos Relacionados
- Incomplete Behçet's syndrome with unusual manifestations.
- Lethal femoral-facial syndrome: a case with unusual manifestations.
- Grebe syndrome: a second case with extremely severe manifestations.
- The EEC syndrome and its ocular manifestations.
- Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.