Literature DB >> 501501

Postaxial acrofacial dysostosis syndrome.

M Miller, R Fineman, D W Smith.   

Abstract

Three patients with a postaxial acrofacial syndrome are presented; the features of these and three other previously described examples are set forth. The facies can be strikingly similar to that of the Treacher Collins syndrome. The limb deficiencies are postaxial, with absence or incomplete development of the fifth digital rays in both the upper and lower limbs. Accessory nipples have been found in most of the patients. The nature of the limb deficiencies and the accessory nipples help to distinguish this condition from Nager AFD. All of the children have normal intelligence and development; most show normal growth. All of the six cases have occurred sporadically.

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Mesh:

Year:  1979        PMID: 501501     DOI: 10.1016/s0022-3476(79)80285-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  21 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

Review 2.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

3.  Hereditary disorders with maladies of the wrist and elbow.

Authors:  J K Sekiya; P J Jebson; D S Louis
Journal:  Iowa Orthop J       Date:  1997

Review 4.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

Review 5.  Review of the Genetic Basis of Jaw Malformations.

Authors:  Mairaj K Ahmed; Xiaoqian Ye; Peter J Taub
Journal:  J Pediatr Genet       Date:  2016-10-12

6.  Postaxial acrofacial dysostosis (Miller) syndrome.

Authors:  D Donnai; H E Hughes; R M Winter
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

Review 7.  Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

Authors:  J Vigneron; M Stricker; P Vert; J M Rousselot; M Levy
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 8.  Nager acrofacial dysostosis.

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

9.  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

10.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

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