Avtor/Urednik		Bunc, Gorazd; Ravnik, Janez; Voršič, Matjaž; Ravnik, Maja
Naslov		Variable presentations of Currarino syndrome in three members of the same family
Tip		članek
Vir		Acta Neurochir (Wien)
Vol. in št.		Letnik 151, št. 9
Leto izdaje		2009
Obseg		str. 1169-73
Jezik		eng
Abstrakt		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.
Deskriptorji		MENINGOCELE SPINAL DYSRAPHISM PELVIC NEOPLASMS TERATOMA LAMINECTOMY DECOMPRESSION, SURGICAL