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Prenatal diagnosis of metatropic dwarfism
Author(s) -
ManouvrierHanu S.,
Devisme L.,
Zelasko M. C.,
Bourgeot Ph.,
VincentDelorme C.,
ValatRigot A. S.,
Puech F.,
Farriaux J. P.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150811
Subject(s) - dwarfism , prenatal diagnosis , medicine , dysplasia , gestation , osteochondrodysplasia , anatomy , thorax (insect anatomy) , achondroplasia , fetus , pathology , pregnancy , biology , pediatrics , genetics , gene
Abstract We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic ‘dumb‐bell’ appearance of the long bones.