Das Gehörorgan Bei Den Angeborenen Kopfmissbildungen

Nager, F.R.; Reynier, J

doi:10.1159/000273652

Cited by 17 publications

(7 citation statements)

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“…Nager syndrome is an extremely rare malformation complex1, with fewer than 100 cases described in the literature. The main problems experienced by affected infants and children are conductive deafness, possibly leading if undiagnosed to mild learning disability, and upper airway obstruction which is responsible for early feeding and respiratory difficulties.…”

Section: Discussionmentioning

confidence: 99%

“…The etiology is unknown, though both autosomal dominant and recessive inheritance have been hypothesized in some families. The syndrome was described for the first time in 1948 by Nager and de Reynier1. Since then, more than 80 cases have been reported in neonates and infants, although there is only one report on the prenatal diagnosis of the condition2.…”

Section: Introducionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal ultrasound diagnosis of Nager syndrome

Paladini¹,

Tartaglione²,

Lamberti³

et al. 2003

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 99%

Section: Introducionmentioning

confidence: 99%

Prenatal ultrasound diagnosis of Nager syndrome

Paladini¹,

Tartaglione²,

Lamberti³

et al. 2003

Ultrasound in Obstet & Gyne

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“…Nager syndrome (OMIM # 154400) is the most common form of acrofacial dysostosis (a group of diseases that combine craniofacial and limb defects), it was first described by Nager and De Reynier in 1948 [102]. The craniofacial abnormalities include downslanting palpebral fissures, malar hypoplasia (underdeveloped chick bones), micrognathia, atresia of the external auditory canal as well as other external ear defects, and cleft palate.…”

Section: Craniofacial Disorders Modeled In Xenopusmentioning

confidence: 99%

Modeling Human Craniofacial Disorders in Xenopus

Dubey

Saint-Jeannet

2017

Curr Pathobiol Rep

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Purpose of Review Craniofacial disorders are among the most common human birth defects and present an enormous health care and social burden. The development of animal models has been instrumental to investigate fundamental questions in craniofacial biology and this knowledge is critical to understand the etiology and pathogenesis of these disorders. Recent findings The vast majority of craniofacial disorders arise from abnormal development of the neural crest, a multipotent and migratory cell population. Therefore, defining the pathogenesis of these conditions starts with a deep understanding of the mechanisms that preside over neural crest formation and its role in craniofacial development. Summary This review discusses several studies using Xenopus embryos to model human craniofacial conditions, and emphasizes the strength of this system to inform important biological processes as they relate to human craniofacial development and disease.

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“…N ager and Reyniers [15] realized in 1948 that the acrofacial dysostosis syndrome is a separate entity among the acrofacial disorders, a heterogeneous group of malformations. It affects the mandibulofacial area as well as the distal limbs and is a manifestation of a field defect due to a disturbed blastogenesis during the 3rd and 4th week of embryogenesis, which ultimately involves different structures [2,9,22].…”

mentioning

confidence: 99%

“…A ls eigenständige Erkrankung einer akrofazialen Dysostose wurde erstmals 1948 von Nager und de Reynier [15] das Nager-Syndrom beschrieben. Es handelt sich dabei um eine heterogene Gruppe von Fehlbildungen mit Beteiligung des mandibulofazialen Bereichs und des peripheren Extremitätenskeletts [2,9,22].…”

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