Fibrochondrogenesis: prenatal diagnosis and outcome.

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.

Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.

OBJECTIVE: To describe the prenatal sonographic features of Stuve-Wiedemann syndrome (SWS). METHODS: A retrospective review of all cases of confirmed SWS during an 8-year period was conducted. Clinical and historical data and outcome of the pregnancies were noted. Fetal biometry, skeletal survey, amniotic fluid volume and associated anomalies were recorded. A sonographic algorithm was proposed to distinguish SWS from other bent bone disorders. RESULTS: In total, there were 10 cases, six of which were diagnosed prenatally. The main prenatal features of SWS were mild-to-moderate micromelia and bowing of the lower limb bones, affecting the tibia more than the femur. There was relative sparing of fibula and upper limb bones, with normal scapulae and clavicles. Camptodactyly was the main associated anomaly. All fetuses developed growth restriction in the late second trimester with oligohydramnios in half of the cases. These features could appear late in pregnancy. Although the thoracic dimensions were normal in the majority of fetuses, respiratory insufficiency, as a result of myotonia, was a leading cause for mortality. CONCLUSIONS: It is possible to diagnose SWS prenatally. SWS is associated with high mortality during the first year of life, and those who survive have high morbidity.