title: Fibrochondrogenesis: prenatal diagnosis and outcome.
abstract: We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.
authors.affiliation: Fetal Medicine Unit, Department of Obstetrics and Gynecology.
authors.forename: G N
authors.initials: GN
authors.lastname: Bekdache
authors.forename: M A
authors.initials: MA
authors.lastname: Begam
authors.forename: F
authors.initials: F
authors.lastname: Chedid
authors.forename: L
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: H
authors.initials: H
authors.lastname: Mirghani
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000401:mortality; D004392:Dwarfism / Q000175:diagnosis* / Q000401:mortality; D019066:Facies; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis