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Femoral hypoplasia—unusual facies syndrome: A genetic syndrome?
Author(s) -
Eastman John Russell,
Escobar Victor
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb04130.x
Subject(s) - phenocopy , hypoplasia , etiology , medicine , differential diagnosis , genetic syndromes , anatomy , pathology , pediatrics , biology , genetics , phenotype , gene
A new case of femoral hypoplasia—unusual facies syndrome is presented, bringing the total number of cases in the literature to seven. A differential diagnosis involving an environmental phenocopy is presented and the etiology of the syndrome is discussed.