Junko MOCHIZUKI¹, Yuji KANAI¹, Yoko ONISHI¹, Yoko KISHIMOTO², Kenichiro HATA², Nobuya UNNO¹

¹Department of Obstetrics and Gynecology, Center for Perinatal Care, Child Health and Development, Kitasato University Hospital, ²National Center for Child Health and Development

キーワード : Jeune syndrome, short rib-polydactyly syndrome, ciliary disorder, prenatal, three-dimensional sonography

Jeune syndrome is a ciliary disorder characterized by short ribs, polydactyly, and multisystem organ abnormalities. This is a case report of a fetus terminated at 19 weeks of gestation because of short limbs, short ribs, and ascites. The fetus was found to have different mutations in both alleles of the DYNC2H1 and was diagnosed as having Jeune syndrome (MIM #613091) caused by compound heterozygotes. We present and describe skeletal images at 18 weeks of gestation recorded using three-dimensional sonography and helical computed tomography.