Prenatal diagnosis of Nager syndrome in a monochorionic‐diamniotic twin pregnancy

Ansart-Franquet, Hélène; Houfflin‐Debarge, V.; Ghoumid, Jamal; Pasz, Nelly; Devisme, Louise; Manouvrier‐Hanu, Sylvie; Andrieux, Joris; Holder‐Espinasse, Muriel

doi:10.1002/pd.2214

Cited by 16 publications

(14 citation statements)

References 9 publications

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“…They have been classified into two major groups according to the type of limb defects: Nager syndrome (NS) (OMIM 154400), characterized by preaxial limb anomalies, and Miller syndrome (OMIM 263750), characterized by postaxial limb anomalies (Opitz et al, 1993). NS is the most common form of AFD, although fewer than 100 cases have been reported (Ansart-Franquet et al, 2009). The cardinal features of this syndrome are downslanting palpebral fissures, malar and mandibular hypoplasia, external and middle ear defects, hypoplastic or absent thumbs and radii, and uncommon and variable lower limb and toe defects (McDonald and Gorski, 1993).…”

Section: Introductionmentioning

confidence: 99%

Prenatal phenotype of Nager syndrome and Rodriguez syndrome

Gana

Gentilin

Bianchi

et al. 2013

Clinical Dysmorphology

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Section: Introductionmentioning

confidence: 99%

Prenatal phenotype of Nager syndrome and Rodriguez syndrome

Gana

Gentilin

Bianchi

et al. 2013

Clinical Dysmorphology

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“…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.…”

Section: Discussionmentioning

confidence: 97%

“…This is the first report of a suspected diagnosis of Nager syndrome made during the third trimester. In all the other cases, the suspicion was raised during the second trimester [2,3,5,6]. The reason for this is probably the low quality of prenatal services still present in several developing countries.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 93%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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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.

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