A. Megarbane et al., PRENATAL ULTRASONOGRAPHY - CLINICAL AND RADIOLOGICAL FINDINGS IN A BOY WITH FIBROCHONDROGENESIS, American journal of perinatology, 15(7), 1998, pp. 403-407
Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported
on nine patients. We report on a boy with fibrochondrogenesis whose pa
rents were second cousins. Prenatal ultrasonography performed at 22 we
eks of gestation revealed an intrauterine growth retardation, an appar
ently large head, an hypoplasia of the thorax, a prominent abdomen, rh
izomelic limbs, and wide metaphysis. The latest have never been report
ed in other lethal dysplasias.