title: 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.
authors.affiliation: Foetal Medicine Unit, Department of Gynaecology and Obstetrics, South Reunion Hospital Group, 97448 Saint Pierre, La Réunion, France.
authors.forename: Hanitra
authors.initials: H
authors.lastname: Randrianaivo
authors.forename: Georges
authors.initials: G
authors.lastname: Haddad
authors.forename: Horatiu
authors.initials: H
authors.lastname: Roman
authors.forename: Anne Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Anne
authors.initials: A
authors.lastname: Lise
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D006132:Growth Plate / Q000002:abnormalities; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011859:Radiography; D016216:Ultrasonography, Prenatal