Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis

ABSTRACT

Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported on nine patients. We report on a boy with fibrochondrogenesis whose parents were second cousins. Prenatal ultrasonography performed at 22 weeks of gestation revealed an intrauterine growth retardation, an apparently large head, an hypoplasia of the thorax, a prominent abdomen, rhizomelic limbs, and wide metaphysis. The latest have never been reported in other lethal dysplasias.

Fibrochondrogenesis - chondrodysplasia - ultrasonography - short limbs - wide metaphysis