Fetal fibrochondrogenesis at 26 weeks' gestation

Abstract

Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination and histological study of fetal bones. Interwoven fibrous septa and fibroblastic degeneration of chondrocytes are pathognomonic. The recurrence rate is 25% and accurate diagnosis is necessary to enable genetic counselling.