Prenatal sonographic diagnosis of Majewski syndrome.
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.
Sirichotiyakul
Supatra
S
Department of Obstetrics and Gynecology, Chiang Mai University, Thailand.
Tongsong
Theera
T
Wanapirak
Chanane
C
Chanprapaph
Pharuhas
P
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal