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Pfeiffer syndrome

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and...

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Detalles Bibliográficos
Autores principales: Vogels, Annick, Fryns, Jean-Pierre
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1482682/
https://www.ncbi.nlm.nih.gov/pubmed/16740155
http://dx.doi.org/10.1186/1750-1172-1-19