Prenatal sonographic diagnosis of Majewski syndrome

• Main Authors: Sirichotiyakul S., Tongsong T., Wanapirak C., Chanprapaph P.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-0036271230&partnerID=40&md5=312abc0769007db5755a44a7b2b83afd; http://www.ncbi.nlm.nih.gov/pubmed/12116111; http://cmuir.cmu.ac.th/handle/6653943832/2541
• Institution: Chiang Mai University

Majewski syndrome is an autosomal recessive disorder characterized by short ribs, polydactyly, short limbs, and a cleft lip. A 26-year-old woman with no family history of genetic diseases presented at 31 weeks' menstrual age with preterm labor and underwent prenatal sonography to screen for fetal anomalies. Sonography revealed a small thorax, markedly short ribs, micromelia, polydactyly, a cleft lip, dolichocephaly, and severe oligohydramnios. The other structures appeared normal. The most likely diagnosis was Majewski syndrome. Vaginal breech delivery was allowed to proceed. The 1,850-g male newborn died of respiratory failure shortly after birth. The postnatal appearance and radiographs confirmed the prenatal diagnosis. © 2002 Wiley Periodicals, Inc.