Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation.
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.
Mother-Child Unit, Universitary Hospital, Federal University of Maranhão (UFMA), São Luiz, MA, Brazil.
Lívia Teresa Moreira
LT
Rios
Department of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber, 956 apto. 113 Visage, Alto da Lapa, São Paulo, SP, 05303-000, Brazil. araujojred@terra.com.br.
Edward
E
Araujo Júnior
Department of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber, 956 apto. 113 Visage, Alto da Lapa, São Paulo, SP, 05303-000, Brazil.
Luciano Marcondes Machado
LM
Nardozza
Department of Gynecology and Obstetrics, Federal University of Paraná (UFPR), Curitiba, PR, Brazil.
Rafael Frederico
RF
Bruns
Department of Obstetrics, Federal University of São Paulo (UNIFESP), Rua Carlos Weber, 956 apto. 113 Visage, Alto da Lapa, São Paulo, SP, 05303-000, Brazil.
Antonio Fernandes
AF
Moron
Mother-Child Unit, Universitary Hospital, Federal University of Maranhão (UFMA), São Luiz, MA, Brazil.
Marília
M
da Glória Martins
Nager syndrome; Pathology; Prenatal diagnosis; Ultrasound