Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We...

Descripción completa

Detalles Bibliográficos
Autores principales: Pavone, Piero, Ruggieri, Martino, Lombardo, Ilaria, Sudi, Jyotsna, Biancheri, Roberta, Castellano-Chiodo, Danilo, Rossi, Andrea, Incorpora, Gemma, Nowak, Norma J., Christian, Susan L., Pavone, Lorenzo, Dobyns, William B.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820683/
https://www.ncbi.nlm.nih.gov/pubmed/19838731
http://dx.doi.org/10.1007/s00431-009-1061-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820683/
https://www.ncbi.nlm.nih.gov/pubmed/19838731
http://dx.doi.org/10.1007/s00431-009-1061-6

Ejemplares similares