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Prenatal ultrasound diagnosis of Nager syndrome
Author(s) -
Paladini D.,
Tartaglione A.,
Lamberti A.,
Lapadula C.,
Martinelli P.
Publication year - 2003
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.52
Subject(s) - medicine , dysostosis , hypoplasia , gestation , prenatal diagnosis , thumb , anatomy , surgery , congenital disease , pregnancy , fetus , genetics , biology
Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits). Since its first description in 1948, more than 80 cases have been reported in the pediatric literature. However, there is only one previous report on the prenatal recognition of the syndrome, which was at 30 weeks of gestation. We report here a further case of Nager syndrome, prospectively diagnosed at 23 weeks of gestation. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.