Das Gehörorgan Bei Den Angeborenen Kopfmissbildungen

Nager, F.R.; Reynier, J

doi:10.1159/000273559

Cited by 36 publications

(35 citation statements)

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“…The eponymous description of AFD was in 1948 by Nager and Reynier, though Slingenberg's case 10, illustrated in Figure 27, on plate VI of his study from 1908 was recognized as NAFD by Pfeiffer and Stoess [Slingenberg, 1908;Nager and de Reyner, 1948;Pfeiffer and Stoess, 1983]. A case has also been identified in Museum Vrolik in Amsterdam; it has recently been interpreted as a 100-year-old NAFD specimen [Oostra et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

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: 99%

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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“…This syndrome was recognized as a specific entity by Nager and deReynier 1 , Craniofacial features include malar hypoplasia, micrognathia, low set posteriorly rotated ears, preauricular tag, atresia of external ear canal. The limb deformities in the Nager syndrome consists of hypoplasia to aplasia of thumb, with or without radius, proximal radioulnar synostosis and short forearm 2,3 .…”

Section: Introductionmentioning

confidence: 99%

Nager Acrofacial Dysostosis Syndrome: A Newborn with Bilateral Hearing Impairment

Naher¹,

Mannan

Noor

et al. 2012

Bangladesh J Child Health

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“…Nager syndrome is the most common form of AFD. It was first recognized by Nager and de Reynier [1948], although previously described by Slingenberg [1908]. Nager syndrome comprises mandibulofacial dysostosis and addition to preaxial limb anomalies.…”

Section: Introductionmentioning

confidence: 99%

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

Kennedy

Teebi

2004

American J of Med Genetics Pt A

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We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs.

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Das Gehörorgan Bei Den Angeborenen Kopfmissbildungen

Cited by 36 publications

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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

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

Nager Acrofacial Dysostosis Syndrome: A Newborn with Bilateral Hearing Impairment

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

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