A rare case of combination trichorinophalangeal syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Bulletin of Russian State Medical University Pub Date : 2023-06-01 DOI:10.24075/brsmu.2023.022

ZK Batyrova, AS Bolshakova, Z. Kumykova, DA Kruglyak, E. Uvarova, VD Chuprynin, FSh Mamedova, I. Sadelov, D. Trofimov

引用次数: 0

Abstract

Two forms of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome are recognized: isolated uterovaginal agenesis and associated with extragenital malformations, including several well-recognized syndromes. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant condition characterized by facial dysmorphism, ectodermal and skeletal features. TRPS comprises TRPSI (caused by a heterozygous pathogenic variant in TRPS1), TRPSII (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Genital anomalies occur particularly in TRPSII. We present a case of rare combination TRPSII with MRKH syndrome. Delayed diagnosis resulted to prolonged pain syndrome and repeated surgery. Recognition of genital anomalies in TRPS allows timely referral diagnosis and appropriate care by paediatrician and adolescent gynaecologists.

查看原文本刊更多论文

罕见的三叉神经综合征合并meyer - rokitansky - k ster- hauser综合征1例

两种形式的Mayer-Rokitansky-Kuster-Hauser (MRKH)综合征是公认的:孤立的子宫阴道发育不全和与生殖器外畸形相关，包括几种公认的综合征。三角鼻综合征(TRPS)是一种罕见的常染色体显性遗传病，以面部畸形、外胚层和骨骼特征为特征。TRPS包括TRPSI(由TRPS1的杂合致病变异引起)、TRPSII(由TRPS1、RAD21和EXT1的连续基因缺失引起)。生殖器异常尤其发生在TRPSII。我们报告一例罕见的TRPSII合并MRKH综合征。延迟诊断导致长时间疼痛综合征和反复手术。对TRPS中生殖器异常的识别允许儿科医生和青少年妇科医生及时转诊诊断和适当护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Bulletin of Russian State Medical University MEDICINE, GENERAL & INTERNAL-

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： Bulletin of Russian State Medical University (Bulletin of RSMU, ISSN Print 2500–1094, ISSN Online 2542–1204) is a peer-reviewed medical journal of Pirogov Russian National Research Medical University (Moscow, Russia). The original language of the journal is Russian (Vestnik Rossiyskogo Gosudarstvennogo Meditsinskogo Universiteta, Vestnik RGMU, ISSN Print 2070–7320, ISSN Online 2070–7339). Founded in 1994, it is issued once every two months publishing articles on clinical medicine and medical and biological sciences, first of all oncology, neurobiology, allergy and immunology, medical genetics, medical microbiology and infectious diseases. Every issue is thematic. Deadlines for manuscript submission are announced in advance. The number of publications on topics in spite of the issue topic is limited. The journal accepts only original articles submitted by their authors, including articles that present methods and techniques, clinical cases and opinions. Authors must guarantee that their work has not been previously published elsewhere in whole or in part and in other languages and is not under consideration by another scientific journal. The journal publishes only one review per issue; the review is ordered by the editors.