[Clinical and genetic heterogeneity of the Ehlers-Danlos syndrome].
A clinical description of Type I and II Ehlers-Danlos syndrome in a 3-year-old girl and a 19-year-old boy is presented. The syndrome is characterized by skin hyperelasticity, articular overextensibility, hemorrhagic manifestations and also by excessive vulnerability of tissues. Clinical descriptions are supplemented with roentgenologic, morphologic and electron microscopic findings as well as with the results of amino-acid analysis and of dermatoglyphic examination of the patient and her parents.
D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011379:Prognosis; D014960:X Chromosome
Klinicheskaia i geneticheskaia geterogennost' sindroma Elersa--Danlosa.