Literature DB >> 6881198

Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.

R A Pfeiffer, H Stoess.   

Abstract

Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.

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Year:  1983        PMID: 6881198     DOI: 10.1002/ajmg.1320150208

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst.

Authors:  R Gershoni-Baruch; I Machoul; Y Weiss; S Blazer
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

Review 2.  Nager acrofacial dysostosis.

Authors:  M T McDonald; J L Gorski
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

3.  The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

Authors:  E Thompson; R Cadbury; M Baraitser
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

4.  Retrograde fibreoptic intubation in a child with Nager's syndrome.

Authors:  H J Przybylo; G W Stevenson; F A Vicari; B Horn; S C Hall
Journal:  Can J Anaesth       Date:  1996-07       Impact factor: 5.063

5.  A case report: nager acrofacial dysostosis.

Authors:  Shahin Abdollahi Fakhim; Nikzad Shahidi; Mehrnoush Mousaviagdas
Journal:  Iran J Otorhinolaryngol       Date:  2012
  5 in total

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