Literature DB >> 2920751

Postaxial acrofacial dysostosis or Miller syndrome. A case report.

D Barbuti1, C Orazi, A Reale, C Paradisi.   

Abstract

A case of postaxial acrofacial dysostosis (Miller syndrome) is presented. This rare syndrome is essentially characterized by a Treacher-Collins-like facial appearance together with absence of the fifth digital ray of all limbs and variable forearm hypoplasia.

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Year:  1989        PMID： 2920751     DOI： 10.1007/BF00595909

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  The mandibulofacial dysostosis; a new hereditary syndrome.

Authors:  A FRANCESCHETTI; D KLEIN
Journal:  Acta Ophthalmol (Copenh)       Date:  1949

2.  Robin sequence and oligodactyly in mother and son.

Authors:  M Robinow; G F Johnson; J Apesos
Journal:  Am J Med Genet       Date:  1986-10

3.  [Malformation-retardation syndrome with bilateral absence of the 5th rays in both hands and feets, cleft palate, malformed ears and eyelids, radioulnar synostosis (author's transl)].

Authors:  H R Wiedemann
Journal:  Klin Padiatr       Date:  1973-05       Impact factor: 1.349

4.  [An extensive form of mandibulo-facial dysostosis].

Authors:  E Genée
Journal:  J Genet Hum       Date:  1969-05

5.  Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.

Authors:  R M Fineman
Journal:  J Pediatr       Date:  1981-01       Impact factor: 4.406

6.  The Genée-Wiedemann syndrome, an acrofacial dysostosis--further observation.

Authors:  J M Opitz; G B Stickler
Journal:  Am J Med Genet       Date:  1987-08

7.  Postaxial acrofacial dysostosis syndrome.

Authors:  M Miller; R Fineman; D W Smith
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  7 in total
  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.  Anaesthetic management of Miller's syndrome.

Authors:  G W Stevenson; S C Hall; B S Bauer; F A Vicari; F L Seleny
Journal:  Can J Anaesth       Date:  1991-11       Impact factor: 5.063

3.  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 in total

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