Rothmund-Thomson syndrome: a report of two patients and a review of the literature.
case_report · Level V
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Abstract
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).
Medical subject headings
- Rothmund-Thomson Syndrome
- Skin Diseases