Rothmund-Thomson syndrome: a report of two patients and a review of the literature.
Two siblings with poikiloderma, short stature and other abnormalities are described. They were originally reported as having Morquio syndrome; subsequently, mucopolysaccharidosis was excluded biochemically and they were classified as 'a newly recognized syndrome of connective tissue dysplasia'. It is now clear that their disorder is the Rothmund-Thomson syndrome (RTS).
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, U.K.
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Moss
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis* / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis*; D013577:Syndrome