Khanke Sankalp, Agrawal Aman, Toshniwal Vaishnavi, Bakshi Sanket S, Chandak Aruna
Medical School, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Anaesthesiology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2023 Apr 19;15(4):e37808. doi: 10.7759/cureus.37808. eCollection 2023 Apr.
McKusick-Kaufman syndrome is a rare genetic disorder that affects limb development, genital formation, and heart function. It is caused by mutations in the gene on chromosome 20. Individuals with this condition may have extra fingers or toes, fused labia or undescended testes, and, less commonly, severe heart defects. Diagnosis involves a physical examination and genetic testing, while treatment focuses on symptom management, including surgical intervention if necessary. The prognosis varies depending on the severity of associated complications. In a recent case, a 27-year-old woman with fetal hydrometrocolpos gave birth to a female neonate with extra digits on both hands and feet, fused labia, and a small vaginal opening. The neonate also had a large abdominal cystic mass, and echocardiography revealed a patent foramen ovale. Genetic testing confirmed an gene mutation, and the hydrometrocolpos required surgical management. Early diagnosis and intervention can improve outcomes for individuals with this syndrome.
麦库西克-考夫曼综合征是一种罕见的遗传性疾病，会影响肢体发育、生殖器形成和心脏功能。它由20号染色体上的基因突变引起。患有这种疾病的个体可能会有多指（趾）、阴唇融合或睾丸未降，较少见的情况下还会有严重的心脏缺陷。诊断包括体格检查和基因检测，而治疗则侧重于症状管理，必要时包括手术干预。预后因相关并发症的严重程度而异。在最近的一个病例中，一名患有胎儿阴道积水积血的27岁女性生下了一名女婴，该女婴双手和双脚都有多指，阴唇融合，阴道开口小。新生儿还患有一个大的腹部囊性肿块，超声心动图显示卵圆孔未闭。基因检测证实了一个基因突变，阴道积水积血需要手术治疗。早期诊断和干预可以改善患有这种综合征的个体的预后。
