Yapar E G, Ekici E, Aydogdu T, Senses E, Gökmen O
Department of High Risk Pregnancy, Doctor Zekai Tahir Burak Women's Hospital, Ankara, Turkey.
Am J Med Genet. 1996 Dec 18;66(3):343-6. doi: 10.1002/(SICI)1096-8628(19961218)66:3<343::AID-AJMG19>3.0.CO;2-M.
Mucometrocolpos is the distention of the uterus and vagina caused by obstruction to the drainage of genital secretions. Although most cases of mucometrocolpos are sporadic, it may be part of an autosomal recessive condition, known as McKusick-Kaufman syndrome (MKS), including postaxial polydactyly and congenital heart disease as main findings. The diagnosis may be difficult when the presence of additional findings creates an overlap with other syndromes. We report on a female infant with mucometrocolpos, postaxial polydactyly, congenital heart disease, short limbs, short ribs, and chest constriction. The clinicopathological findings are described and discussed in the context of the phenotypic spectrums of MKS and mucometrocolpos concomitant with Ellis van Creveld syndrome.
阴道子宫积黏液是指由于生殖分泌物引流受阻导致的子宫和阴道扩张。虽然大多数阴道子宫积黏液病例是散发性的，但它可能是常染色体隐性疾病——麦库西克-考夫曼综合征（MKS）的一部分，该综合征主要表现为轴后多指畸形和先天性心脏病。当存在其他额外表现与其他综合征重叠时，诊断可能会很困难。我们报告了一名患有阴道子宫积黏液、轴后多指畸形、先天性心脏病、四肢短小、肋骨短小和胸廓狭窄的女婴。结合MKS的表型谱以及与埃利斯-范克里维尔德综合征并发的阴道子宫积黏液，对临床病理结果进行了描述和讨论。
