Article
Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report.
Chinese medical journal - 1 Sept 2012
Chen Lian, Zhao Yang-Yu, Wei Yuan, Wang Yan, Zhang Yan, Wang Yong-Qing, Liu Jian-Ying, Yang Yong, Tan Yan-Hong
Abstract excerpt
Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need...
Topics
- Adult
- Biopsy
- Ectodermal Dysplasia
- Female
- Humans
- Infant, Newborn
- Male
- Mutation
- Pregnancy
- Prenatal Diagnosis
- Skin