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[Anhidrotic ectodermal dysplasia--Identification of heterocygote (carrier) females (author's transl)]
Zeitschrift Fur Geburtshilfe Und Perinatologie
|April 1, 1977
Insights
Anhidrotic ectodermal dysplasia is a severe X-linked disorder affecting newborns. Early identification of carrier females is crucial due to high infant mortality and developmental issues in survivors.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Anhidrotic ectodermal dysplasia (AED) is a rare genetic disorder.
- This X-linked recessive condition presents significant challenges, including high infant mortality and psychological impairment in survivors.
Abstract:
We report on a newborn male infant suffering from anhidrotic ectodermal dysplasia. This x-linked recesive disorder has a high letality during the first year of life. Survivors are psychologically grossly impaired. This necessitates identification of carrier females. Characteristics of heterocygotes (e.g. palmar ridge flattening, paucety of pores, dermoglyphic pattern) are described. In pregnancy amniocentesis and chromosome analysis for sex determination are to be recommended.