Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature

Autor:	Marie-Cécile Aubry, Pascal Megier, Michael Ayeva-Derman, Olga Esperandieu, Gérard Couly, Alain Desroches
Rok vydání:	1998
Předmět:	Pregnancy Fetus Pediatrics medicine.medical_specialty Routine ultrasound business.industry Obstetrics and Gynecology Dysostosis Antenatal ultrasound Cerebro medicine.disease Surgery Maldevelopment Gestation Medicine business Genetics (clinical)
Zdroj:	Prenatal Diagnosis. 18:1294-1299
ISSN:	1097-0223 0197-3851
Popis:	We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::22fa4a7c6f90fc5da1a56c88f136d2d2 https://doi.org/10.1002/(sici)1097-0223(199812)18:12<1294::aid-pd433>3.0.co Zobrazit plný text záznamu Plný text