Autosomal dominant sacral agenesis: Currarino syndrome
Open Access
- 1 August 2000
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (8), 561-566
- https://doi.org/10.1136/jmg.37.8.561
Abstract
Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently,HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.Keywords
This publication has 68 references indexed in Scilit:
- CorrespondenceActa Oncologica, 1991
- Neurenteric cysts—A spectrumJournal of Pediatric Surgery, 1988
- Die Currarino-Trias - Beobachtung von 4 FällenEuropean Journal of Pediatric Surgery, 1988
- Neuroradiologic evaluation of sacral abnormalities in imperforate anus complexJournal of Pediatric Surgery, 1987
- The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral massPediatric Radiology, 1984
- Anterior sacral defects: An autosomal dominantly inherited conditionThe Journal of Pediatrics, 1983
- Anterior sacral meningocele: Review of the literatureSurgical Neurology, 1983
- Hereditary presacral teratomaJournal of Pediatric Surgery, 1974
- Anterior meningoceles presenting as abdominal swellingsJournal of Pediatric Surgery, 1972
- Congenital anal stenosis with anterior sacral meningoceleJournal of Pediatric Surgery, 1971