Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family
References (8)
Some congenital deformities of rectum, anus, vagina and urethra (Hunterian Lecture)
Ann. Roy. Coll. Surg. Eng.
(1951)Imperforate anus
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Anterior sacral meningocoele
Surg. Gynec. Obstet.
(1968) Congenital absence of sacrum and coccyx: Report of cases and review of literature
Brit. J. Surg.
(1950)
Cited by (50)
Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype
2012, GeneCitation Excerpt :Recently, a fourth clinical feature was proposed to be part of the CS (Crétolle et al., 2008) that manifests as a neural tube defect. In 1983, Yates et al. (1983) described CS to be an autosomal dominant congenital malformation, since several early case reports showed a tendency for this disease to cluster in families (Kenefick, 1973; Anderson and Burke, 1977; Say and C.J.G., 1975; Rochet et al., 1966; Klenerman and Merrick, 1973; Aaronson, 1970). Over a decade later, the first disease-causing gene for CS was reported (Ross et al., 1998).
Anorectal Malformations
2012, Pediatric Surgery, 2-Volume Set: Expert Consult - Online and PrintAnorectal Malformations
2012, Pediatric SurgeryPresacral Meningocele: Diagnosis and Treatment
2006, Seminars in Spine SurgeryCitation Excerpt :Most ASMs are congenital in nature, as illustrated by the age distribution, familial clustering, and associated congenital defects. Although most congenital ASMs are thought to be sporadic, familial and X-linked dominance has been reported.2,9,13 ASM, especially in conjunction with other associated congenital anomalies (see further), may be considered as belonging to the caudal regression syndrome (CRS).
Anorectal Malformations
2006, Pediatric Surgery: Sixth Edition
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Surgical Registrar, St. Bartholomew's Hospital, London, England; formerly Senior House Officer, Hospital for Sick Children, London, England.