Author/Editor		Bunc, Gorazd; Ravnik, Janez; Voršič, Matjaž; Ravnik, Maja
Title		Variable presentations of Currarino syndrome in three members of the same family
Type		članek
Source		Acta Neurochir (Wien)
Vol. and No.		Letnik 151, št. 9
Publication year		2009
Volume		str. 1169-73
Language		eng
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.
Descriptors		MENINGOCELE SPINAL DYSRAPHISM PELVIC NEOPLASMS TERATOMA LAMINECTOMY DECOMPRESSION, SURGICAL