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Diagnosis in dysmorphology: clues from the skin
Author(s) -
Smithson S.F.,
Winter R.M.
Publication year - 2004
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.1365-2133.2004.06266.x
Subject(s) - genetic counseling , medicine , prenatal diagnosis , genetic syndromes , intensive care medicine , pediatrics , pregnancy , genetics , biology , fetus
Summary Dysmorphology is the study of abnormal patterns of human development. A recurrent and recognizable combination of physical and behavioural abnormalities makes up a syndrome. Accurate recognition and diagnosis of syndromes is important because it influences medical management of patients, provides information about prognosis, and allows for genetic counselling including accurate estimation of genetic risk within families and, where possible, prenatal diagnosis. This review examines the diagnostic process in dysmorphology and indicates how skin signs may provide important clues to the clinician.