Variable presentations of Currarino syndrome in three members of the same family.
Acta Neurochir (Wien)
; 151(9): 1169-73, 2009 Sep.
Article
en En
| MEDLINE
| ID: mdl-19517060
ABSTRACT
The article presents an autosomal dominant Currarino syndrome with incomplete penetrance in three out of four members of the same family. The mother had only a bony sacral defect and no other signs. In the older daughter, the syndrome was completely developed with presacral cystic teratoma, a sacral defect and abdominal discomfort. The younger daughter had no clinical or imaging features of the disease. The only son harboured presacral meningocele, urinary stenosis and a sacral defect. The daughter and son with developed variants of the syndrome were successfully operated on and are now symptom free.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Sacro
/
Disrafia Espinal
/
Meningocele
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Acta Neurochir (Wien)
Año:
2009
Tipo del documento:
Article
País de afiliación:
Eslovenia