title: A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.
abstract: The spondylocostal dysostosis (SCD) is one of the two major clinico-radiological subtypes of the Jarcho-Levin syndrome (JLS). The JLS is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and costal defects. The JLS has been classified into 2 major clinical phenotypes, based on the extent and distribution of skeletal anomalies, the pattern of inheritance and the prognosis. We report the case of a non-consanguineous 35-year-old female patient, with a history of multiple large leiomyomas gravida 1, para 1. A three-dimensional ultrasound at 18 weeks of gestation revealed: thoracic and lumbar hemivertebrae with abnormal alignment of the vertebral bodies and kypho-scoliosis, also the absence of two right ribs and abnormal shaped ribs. The biometric measurement was appropriate for gestational age and no other malformations were found. Although there was no previous history, based on the three-dimensional ultrasound findings a mild subtype of JLS was suspected. At term, the patient gave birth, by Cesarean section, to a male fetus, with a weight of 2700g, a length of 50cm and a calculated Apgar score of 9. The postpartum examination of the fetus confirmed the diagnose of SCD. The evolution of the newborn was good - he had no respiratory difficulty; he will benefit from an experimental surgery involving expandable titanium ribs. Our case illustrates the importance of an accurate ultrasound examination, which can be hindered by multiple large leyomiomas, in order to diagnose and to differentiate the two subtypes of JLS. The SCD can have a favorable evolution with the appropriate perinatal and postpartum care.
authors.affiliation: Obstetrics and Gynecology Department, Bucharest Emergency University Hospital.
authors.forename: M
authors.initials: M
authors.lastname: Cirstoiu
authors.forename: O
authors.initials: O
authors.lastname: Munteanu
authors.forename: O
authors.initials: O
authors.lastname: Bodean
authors.forename: C
authors.initials: C
authors.lastname: Cirstoiu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D006548:Hernia, Diaphragmatic / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D007889:Leiomyoma / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D008297:Male; D018743:Perinatal Care; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
keywords: Jarcho-Levin syndrome; hemivertebrae; spondylocostal dysostosis; ultrasound