Sharma Deepak, Singh Ravinder, Shastri Sweta
Department of Neonatology, Fernandez Hospital, Hyderabad, India.
Department of Pediatrics, Civil Hospital, Hisar, Haryana, India.
Int Med Case Rep J. 2015 Dec 4;8:317-20. doi: 10.2147/IMCRJ.S92122. eCollection 2015.
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.
无阴茎畸形(阴茎缺失)是一种极为罕见的异常情况,在医学文献中鲜有描述,它可能是尿直肠隔畸形序列(URSMS)的一部分。医学文献中几乎未报道过URSMS,其包括会阴和肛门开口缺失,并伴有生殖器模糊以及泌尿生殖、结肠和腰骶部异常。本病例报告说明了对诊断为无阴茎畸形的婴儿进行详细检查的重要性。我们报告一例新生儿,出生后被诊断为患有URSMS综合征的无阴茎畸形。该新生儿患有心内膜垫缺损(房间隔缺损和室间隔缺损)以及双侧肾缺如。该新生儿因肺发育不全导致呼吸衰竭而死亡。