Prenatal ultrasound diagnosis of Nager syndrome

Paladini, D.; Tartaglione, Antonio; Lamberti, A.; Lapadula, C.; Martinelli, Pasquale

doi:10.1002/uog.52

Cited by 35 publications

(24 citation statements)

References 5 publications

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“…Furthermore, NAFD in combination with club foot has only been reported five times [Opitz et al, 1993;Kubota et al, 2001]. The more severe the syndrome, as in stillborn babies, the more frequently are lower limb anomalies found [David et al, 1996;Kubota et al, 2001;Paladini et al, 2003]. In addition to NAFD, the fetus we studied shows a change in the position of the foot or club foot on the right side, unilateral tibial torsion on the left side, and a single umbilical artery.…”

Section: Discussionmentioning

confidence: 86%

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Göbbel

Schultka

Klunker

et al. 2005

American J of Med Genetics Pt A

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The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724–1774), his son Philipp Friedrich Theodor Meckel (1755–1803), and his grandson Johann Friedrich Meckel the Younger (1781–1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH‐ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD. © 2005 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 86%

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Göbbel

Schultka

Klunker

et al. 2005

American J of Med Genetics Pt A

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show abstract

“…Most often these patients are of normal intelligence and stature. The developmental delays are attributed to hearing, feeding and respiratory difficulties in early age [9]. Hence these patients might present with reduced stature, speech difficulties and mild mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Nager Syndrome Does Not Preclude Organ Donation

Ayloo¹,

Nantais²,

Çimen³

et al. 2014

SOJS

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“…However, in trisomy 18 only minor digital anomalies are present (clinodactyly or camptodactyly) and, in addition, a karyo-type may rule out the aneuploidy. Another condition to consider in the differential diagnosis is Nager syndrome, or acrofacial dysostosis, a rare malformative complex characterized by external ear anomalies, micrognathia, radial limb hypoplasia, and absence of the thumb and/or other digits (Paladini et al, 2003). However, neither hydrocephalus not lower-limb abnormalities have been described in Nager syndrome.…”

Section: Case Reportmentioning

confidence: 98%