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A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies
Author(s) -
Collins F. A.,
Partington M. W.,
Mulcahy D.,
Turner G.
Publication year - 1990
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.1399-0004.1990.tb03385.x
Subject(s) - short stature , clinodactyly , medicine , ptosis , heart disease , pediatrics , anatomy , surgery
A mother and two daughters are presented with severe short stature with disproportionately short limbs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high‐arched palate and crowded dentition. This appears to be a previously undescribed syndrome, probably inherited as an autosomal dominant trait.