Bachh Arshad Altaf, Pulluri Sridhar, Beigh Aadil, Raju Chippa, Deshpande Ranganath
Department of Pulmonary Medicine, Mamata Medical College and Hospital, Khammam, Andra Pradesh, India.
Iran J Med Sci. 2014 Mar;39(2):148-51.
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.
原始肺芽发育失败会导致一种极其罕见的先天性异常，每10万例活产中患病率为34例，称为肺发育不全。在一半的此类病例中，存在心血管、骨骼、胃肠道或泌尿生殖系统的相关先天性畸形。迈耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征的定义为子宫和阴道上三分之二先天性发育不全，伴有正常的第二性征、卵巢和正常核型（46, XX）。我们报告了一例极其罕见的右肺发育不全、MRKH综合征以及右肾缺如伴左盆腔肾的关联病例，据我们所知，这是首次报告的此类关联病例。
