[Rothmund syndrome or Thomson syndrome. An analysis of the literature exemplified by a personal case].
We report on a now 16 month old child, born with multiple bone defects. A characteristic poikiloderma leading to the diagnosis appeared after six months. A review of the literature is given and the clinical heterogeneity of the Rothmund-Thomson-Syndrome is discussed. It is suggested, that the combination of the described malformations represents a Thomson Syndrome.
D002386:Cataract / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*; D012871:Skin Diseases / Q000175:diagnosis*; D013577:Syndrome
Rothmund-Syndrom oder Thomson-Syndrom. Eine kritische Analyse der Literatur am Beispiel eines eigenen Falles.