Premium
Rothmund‐Thomson syndrome: a report of two patients and a review of the literature
Author(s) -
MOSS CELIA
Publication year - 1990
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1990.tb06272.x
Subject(s) - poikiloderma , short stature , connective tissue disorder , medicine , dermatology , dysplasia , pediatrics , pathology
summary 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).