Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/35345
Title: Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation
Authors: Moreira Rios, Livia Teresa
Araujo Junior, Edward [UNIFESP]
Machado Nardozza, Luciano Marcondes [UNIFESP]
Bruns, Rafael Frederico
Moron, Antonio Fernandes [UNIFESP]
Martins, Marilia da Gloria
Universidade Federal de São Paulo (UNIFESP)
Fed Univ Maranhao UFMA
Universidade Federal do Paraná (UFPR)
Keywords: Prenatal diagnosis
Nager syndrome
Ultrasound
Pathology
Issue Date: 1-Oct-2012
Publisher: Springer
Citation: Journal of Medical Ultrasonics. Tokyo: Springer Japan Kk, v. 39, n. 4, p. 287-289, 2012.
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.
URI: http://repositorio.unifesp.br/handle/11600/35345
ISSN: 1346-4523
Other Identifiers: http://dx.doi.org/10.1007/s10396-012-0374-7
Appears in Collections:Artigo

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