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

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

Author Moreira Rios, Livia Teresa Google Scholar
Araujo Junior, Edward Autor UNIFESP Google Scholar
Machado Nardozza, Luciano Marcondes Autor UNIFESP Google Scholar
Bruns, Rafael Frederico Google Scholar
Moron, Antonio Fernandes Autor UNIFESP Google Scholar
Martins, Marilia da Gloria Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Fed Univ Maranhao UFMA
Universidade Federal do Paraná (UFPR)
Abstract Nager syndrome or acrofacial dysostosis is a rare and complex malformation characterized by ear anomalies, micrognathia, radial limb hypoplasia, and absence of the thumb or other fingers. Since the original description of the syndrome in 1948, there have only been four reports of prenatal diagnoses in the literature, all during the second trimester, and only two of them had anatomopathological correlations. We describe a case of Nager syndrome that was suspected in the third trimester of gestation and confirmed postnatally through pathology. the mother was white, 27 years old, and G5P2A2, with a family history of a brother with a harelip. She was referred to our service at 33 weeks of pregnancy with an ultrasound fetal diagnosis of musculoskeletal dysplasia associated with severe micrognathia and severe polyhydramnios. Birth was by means of cesarean section because of suspected fetal distress, which resulted in extraction of a live male fetus with Apgar 1/4, weight of 1,505 g, severe mandibular hypoplasia, low-set ears, severe upper-limb shortening, and absent left thumb. Death occurred 4 h after birth. Anatomopathological examination confirmed the diagnosis of Nager syndrome.
Keywords Prenatal diagnosis
Nager syndrome
Language English
Date 2012-10-01
Published in Journal of Medical Ultrasonics. Tokyo: Springer Japan Kk, v. 39, n. 4, p. 287-289, 2012.
ISSN 1346-4523 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 287-289
Access rights Closed access
Type Article
Web of Science ID WOS:000309862100016

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