Literature DB >> 12601847

Prenatal ultrasound diagnosis of Nager syndrome.

D Paladini1, A Tartaglione, A Lamberti, C Lapadula, P Martinelli.   

Abstract

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.

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Year:  2003        PMID: 12601847     DOI: 10.1002/uog.52

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  5 in total

1.  Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Authors:  Rajoo Thapa; Shanto Pramanik; Maya Mukhopadhyay; Apurba Ghosh
Journal:  Indian J Pediatr       Date:  2006-07       Impact factor: 1.967

2.  Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation.

Authors:  Lívia Teresa Moreira Rios; Edward Araujo Júnior; Luciano Marcondes Machado Nardozza; Rafael Frederico Bruns; Antonio Fernandes Moron; Marília da Glória Martins
Journal:  J Med Ultrason (2001)       Date:  2012-05-25       Impact factor: 1.314

3.  Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

Authors:  Daniela Cardoso Pereira; Luiz Claudio Silva Bussamra; Edward Araujo Júnior; Carolina Leite Drummond; Luciano Marcondes Machado Nardozza; Antonio Fernandes Moron; José Mendes Aldrighi
Journal:  Case Rep Obstet Gynecol       Date:  2013-04-04

4.  Molecular mechanisms of hearing loss in Nager syndrome.

Authors:  Santosh Kumar Maharana; Jean-Pierre Saint-Jeannet
Journal:  Dev Biol       Date:  2021-04-14       Impact factor: 3.148

5.  Limbal dermoid in Nager acrofacial dysostosis: a rare case report.

Authors:  Rohit Malik; Sumit Goel; Saurabh Aggarwal
Journal:  Indian J Ophthalmol       Date:  2014-03       Impact factor: 1.848

  5 in total

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