Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis
1998
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.
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