[Ectodermal dysplasia with alopecia, a higher rate of chromosome breaks and normal dentition].
The authors present in two case-histories of unrelated female patients the characteristics of the syndrome of ectodermal dysplasia with alopecia and absence of hair and concurrent immunodeficiency and a higher number of chromosomal breaks. In the probands some other important symptoms of ectodermal dysplasias were lacking, such as disorders of dentition and absence of sweat glands. In this affection, hitherto not mentioned in our literature in conjunction with an increased number of chromosomal breaks, the author draws attention to genetic and prenatal genetic associations. He assumes an autosomal recessive heredity of this nosological unit.
Kuklík
M
M
Genetické oddĕlení pro kostní a zubní dysplazie dĕtské stomatologické kliniky 2. lékarské fakulty Univerzity Karlovy.
D000328:Adult; D000505:Alopecia / Q000150:complications*; D002869:Chromosome Aberrations; D003817:Dentition; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans
Ektodermální dysplázie s alopecií, vyssí frekvencí chromosomových zlomů a normální denticí.