We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from
Inheritance of familial congenital isolated anorectal malformations: Case report and review
โ Scribed by Landau, Daniella; Mordechai, Jacov; Karplus, Michael; Carmi, Rivka
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 13 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970822)71:3<280::aid-ajmg6>3.0.co;2-y
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โฆ Synopsis
We report on a 3-generation family with 4 members affected with congenital low anorectal malformations. The vertical segregation of the anomalies and the occurrence of affected males and females support autosomal-dominant inheritance, which was suggested previously for this type of congenital anomaly. Am. J. Med. Genet. 71:280-282, 1997.
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