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Prenatal diagnosis of hypochondroplasia

1985; Wiley; Volume: 5; Issue: 6 Linguagem: Inglês

10.1002/pd.1970050609

1097-0223

Claude Stoll, P Manini, Joan Rosen Bloch, M‐P. Roth,

Hip disorders and treatments

Abstract 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.