Pulmonary Aplasia with Unusual Associations in a Woman

• Main Authors: Arshad Altaf Bachh, Sridhar Pulluri, Aadil Beigh, Chippa Raju, Ranganath Deshpande
• Format: Article
• Language: English
• Published: Shiraz University of Medical Sciences 2014-03-01
• Series: Iranian Journal of Medical Sciences
• Subjects: Lung agenesis; Renal agenesis; Müllerian anomalies
• Online Access: http://ijms.sums.ac.ir/index.php/IJMS/article/view/595

Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital aplasia of the uterus and the upper two thirds of the vagina with normal secondary sexual characteristics, ovaries, and a normal karyotype (46, XX). We report an extremely rare association of right lung aplasia, MRKH syndrome, and right renal agenesis with left pelvic kidney, which to the best of our knowledge is the first such association reported.