[Neuroectodermal dysplasia in 2 Uzbek families].
The authors present the clinical and genealogical description of 6 patients with neuroectodermal dysplasia diagnosed by a medical expedition party in Khankin district of the Khorezm region. Unique combination of clinical signs (total alopecia, microcephalia, oligophrenia, hyperhydrosis and hypogenitalism) helped differentiating the syndrome from other well-known hereditary neuroectodermal dysplasias. The nature of the syndrome segregation in the families suggested its autosomal-recessive mode of inheritance.
Dadali
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Ginter
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D000293:Adolescent; D000328:Adult; D044466:Asian People; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D014610:Uzbekistan
Sindrom neĭroektodermal'noĭ displazii v dvukh Uzbekskikh sem'iakh.