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Prenatal diagnosis of hypochondroplasia
Author(s) -
Stoll C.,
Manini P.,
Bloch J.,
Roth MP.
Publication year - 1985
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.1970050609
Subject(s) - achondroplasia , medicine , dwarfism , prenatal diagnosis , gestation , pregnancy , fetus , abortion , obstetrics , anatomy , pediatrics , biology , biochemistry , genetics , gene
Prenatal diagnosis of a fetus at risk for hypochondroplasia, a short limb dwarfism condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation. The limb bones were measured and shown to be decreased in length. The pregnancy was terminated. Post abortion X‐ray did not show caudal narrowing in the lumbar spine but the pelvis had the features of hypochondroplasia.