The tricho-rhino-phalangeal syndrome
AUTOR(ES)
Weaver, David D.
RESUMO
The tricho-rhino-phalangeal syndrome is characterized by sparse fine hair, bulbous nose, and brachydactyly. The clinical and radiological findings of four affected family members, a father and his three children, are presented. Cardiovascular anomalies, previously unreported in this syndrome, were present in one of the children. Psychological and immunological evaluations were found to be essentially normal. The genetics of this condition and suggested counselling are presented.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013153Documentos Relacionados
- Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
- Deletion of the GATA Domain of TRPS1 Causes an Absence of Facial Hair and Provides New Insights into the Bone Disorder in Inherited Tricho-Rhino-Phalangeal Syndromes
- Complex translocation in a boy with trichorhinophalangeal syndrome.
- Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.
- The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer