Acrofacial dysostosis syndromes: A relevant prenatal dilemma. A case report and brief literature review

Abstract

The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.

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

“…Nager syndrome is an extremely rare abnormality, with few reports of prenatal diagnosis in the literature [2,3,5,6]. Prenatal suspicion is important because the main cause of neonatal death is respiratory insufficiency, which occurs because of atresia of the upper airways.…”

“…Since the original description of the syndrome in 1948, there have been only four reports of prenatal diagnoses in the literature [2,3,5,6]. However, only two of them had an anatomopathological correlation [3,6], and all were suspected during the second trimester of gestation.…”

“…The etiology is unknown, although dominant or recessive autosomal inheritance has been hypothesized in some families [2]. Some teratogens, such as retinoic acid, have been implicated in developmental disorders of the brachial arches in laboratory tests [3]. Depending on the limb affected, two major groups have been defined: Nager syndrome with predominant preaxial anomalies and Genee-Wiedemann or Miller syndrome with predominant post-axial anomalies; both present the same facial anomalies [4].…”

“…However, only two of them had an anatomopathological correlation [3,6], and all were suspected during the second trimester of gestation. We describe a case of Nager syndrome suspected in the third trimester of gestation through ultrasound examination in the 33rd week of gestation, which was confirmed postnatally through pathology.…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…In addition, some patients may exhibit congenital heart defects. [71][72][73] Hemifacial microsomia primarily affects the development of the ear, mouth and mandible, while Goldenhar syndrome shows vertebral abnormalities, epibulbar dermoids and facial deformities. 74 Management of craniofacial syndromes is aimed at the specific needs of each individual.…”