Literature DB >> 3344768

Acrofacial dysostosis with postaxial limb deficiency.

J P Fryns1, H Van den Berghe.   

Abstract

Here we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et al [1979]. In addition to facial changes strikingly similar to that of the Teacher-Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.

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Year:  1988        PMID: 3344768     DOI: 10.1002/ajmg.1320290126

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


  3 in total

1.  A variant or a "new" postaxial acrofacial dysostosis syndrome.

Authors:  Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2008-02-20       Impact factor: 3.183

2.  Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

Authors:  A L Ogilvy-Stuart; A C Parsons
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Orodental findings in postaxial acrofacial dysostosis.

Authors:  Aadithya B Urs; Priya Kumar; Kalpana Nunia
Journal:  J Oral Maxillofac Pathol       Date:  2014-01
  3 in total

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