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A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

Authors Sharma D, Singh R, Shastri S

Received 9 July 2015

Accepted for publication 15 October 2015

Published 4 December 2015 Volume 2015:8 Pages 317—320

DOI https://doi.org/10.2147/IMCRJ.S92122

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Yusuke Okuma

Peer reviewer comments 2

Editor who approved publication: Professor Ronald Prineas


Deepak Sharma,1 Ravinder Singh,2 Sweta Shastri3

1Department of Neonatology, Fernandez Hospital, Hyderabad, 2Department of Pediatrics, Civil Hospital, Hisar, Haryana, 3Department of Pathology, NKP Salve Medical College, Nagpur, Maharashtra, India

Abstract: Aphallia (absence of penis) is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS). URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect) and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure.

Keywords: aphallia, urorectal septum malformation sequence, cloacal membrane, hindgut development, congenital aphallia, anorectal malformation

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