[Anhidrotic ectodermal dysplasia--Identification of heterocygote (carrier) females (author's transl)].
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.
D000328:Adult; D000649:Amniocentesis; D001831:Body Temperature; D003878:Dermatoglyphics; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000401:mortality; D005260:Female; D006579:Heterozygote; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D014071:Tooth Abnormalities / Q000235:genetics
Ektodermale Dysplasie vom anhidrotischen Typ--Identifizierung heterocygoter Merkmalsträgerinnen.