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Prenatal sonographic diagnosis of Majewski syndrome
Author(s) -
Sirichotiyakul Supatra,
Tongsong Theera,
Wanapirak Chanane,
Chanprapaph Pharuhas
Publication year - 2002
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.10066
Subject(s) - medicine , oligohydramnios , prenatal diagnosis , polydactyly , osteochondrodysplasia , rib cage , pregnancy , obstetrics , fetus , pediatrics , anatomy , genetics , biology
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. J Clin Ultrasound 30:303–307, 2002; Published online in Wiley InterScience (www. interscience.wiley.com). DOI: 10.1002/jcu.10066