Sharma Deepak, Murki Srinivas, Pratap Oleti Tejo, Irfan Gm, Kolar Geeta
Department of Neonatology, Fernandez Hospital, Hyderabad, India.
Department of Pediatric Surgery, Niloufer Hospital, Hyderabad, India.
Clin Med Insights Pediatr. 2015 Jan 14;9:7-11. doi: 10.4137/CMPed.S20787. eCollection 2015.
Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis.
新生儿阴道积水（HMC）是一种罕见的苗勒管异常，发病率为0.006%。它是由于阴道阻塞，障碍物近端黏液分泌物积聚所致。这些分泌物继发于母体雌激素对子宫和宫颈腺体的宫内及产后刺激。先天性HMC、多指畸形和心脏异常三联征是麦库西克-考夫曼综合征的主要特征，该综合征也被称为阴道积水-多指畸形综合征。巴德-比德尔综合征是一种众所周知的综合征，其特征包括性腺功能减退、肥胖、轴后多指畸形、肾发育不全、视网膜变性和智力障碍。在本病例报告中，我们描述了一名患有HMC、多指畸形和肾积水的新生儿。
