Piazza Mauri J, Urbanetz Almir A
Tocogynecology Department of the Federal University of Paraná - UFPR. Curitiba, PR, Brazil.
JBRA Assist Reprod. 2018 Jun 1;22(2):157-159. doi: 10.5935/1518-0557.20180025.
Hand-food-genital syndrome (HFGS) is a rare genetic condition. This report describes the cases of two patients, aged 33 and 15, presenting related somatic abnormalities. HFGS stems from an autosomal anomaly linked to the HOXA 13 gene. Therapeutic procedures are discussed in order to identify the best treatment approach to the patients, as well as possible conditioning genetic anomalies.
手-食物-生殖器综合征(HFGS)是一种罕见的遗传疾病。本报告描述了两名年龄分别为33岁和15岁的患者出现相关躯体异常的病例。HFGS源于与HOXA 13基因相关的常染色体异常。讨论了治疗程序,以确定针对患者的最佳治疗方法以及可能的遗传性异常情况。