Chikkannaiah Panduranga, Nagaraju Smitha, Kangle Rajit, Gosavi Mansi
Department of Pathology, Employees' State Insurance Corporation Medical College and PGIMSR, Bengaluru, Karnataka, India.
Department of Pathology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India.
J Lab Physicians. 2015 Jul-Dec;7(2):131-3. doi: 10.4103/0974-2727.163139.
Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.
外胚层发育不良是一组遗传性疾病,涉及毛发、牙齿、指甲、汗腺等外胚层结构的发育缺陷。X连锁隐性遗传最为常见。在此,我们描述了一例女性胎儿新发外胚层发育不良的围产期尸检结果。据我们所知,这是首例关于外胚层发育不良病例的胎儿尸检描述。