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Rothmund‐Thomson syndrome (Poikiloderma Congenitale) associated with hydrocephalus
Author(s) -
MITCHELL E. A.,
CAIRNS L. M.,
HODGE J. L. R.
Publication year - 1980
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1980.tb01319.x
Subject(s) - poikiloderma , medicine , hydrocephalus , surgery , dermatology
, An early case of Rothmund‐Thomson syndrome (poikiloderma congenitale) is described whose disproportionately large head was shown by computer‐assisted tomography to be due to hydrocephalus. Significant delay in bone age was also present, although no endocrinopathy could be demonstrated.