Literature DB >> 1941965

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

A L Ogilvy-Stuart1, A C Parsons.   

Abstract

A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. In addition to the characteristic facial and limb defects, previously undescribed anomalies, including midgut malrotation, gastric volvulus, and renal anomalies, are recorded.

Entities:  

Mesh：

Year:  1991        PMID： 1941965      PMCID： PMC1017057          DOI： 10.1136/jmg.28.10.695

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome.

Authors:  P Meinecke; H R Wiedemann
Journal:  Am J Med Genet       Date:  1987-08

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.  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

4.  Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation.

Authors:  H Hauss-Albert; E Passarge
Journal:  Am J Med Genet       Date:  1988-11

5.  Acrofacial dysostosis with postaxial limb deficiency.

Authors:  J P Fryns; H Van den Berghe
Journal:  Am J Med Genet       Date:  1988-01

6.  Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.

Authors:  K H Chrzanowska; J P Fryns; M Krajewska-Walasek; L Wisniewski; H Van den Berghe
Journal:  Clin Genet       Date:  1989-02       Impact factor: 4.438

7.  Postaxial acrofacial dysostosis or Miller syndrome. A case report.

Authors:  D Barbuti; C Orazi; A Reale; C Paradisi
Journal:  Eur J Pediatr       Date:  1989-02       Impact factor: 3.183

8.  Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis.

Authors:  M Richards
Journal:  Anaesthesia       Date:  1987-08       Impact factor: 6.955

Review 9.  Fibular a/hypoplasia: review and documentation of the fibular developmental field.

Authors:  S O Lewin; J M Opitz
Journal:  Am J Med Genet Suppl       Date:  1986

10.  Postaxial acrofacial dysostosis syndrome.

Authors:  M Miller; R Fineman; D W Smith
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  10 in total
  7 in total

1.  Familial postaxial acrofacial dysostosis syndrome.

Authors:  A Giannotti; M C Digilio; Q Virgili; M G Obregon; A M Guadagni; T Ventura; B Dallapiccola
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

2.  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

3.  Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Authors:  Bobby G Ng; Lynne A Wolfe; Mie Ichikawa; Thomas Markello; Miao He; Cynthia J Tifft; William A Gahl; Hudson H Freeze
Journal:  Hum Mol Genet       Date:  2015-02-12       Impact factor: 6.150

4.  Treacher Collins syndrome: etiology, pathogenesis and prevention.

Authors:  Paul A Trainor; Jill Dixon; Michael J Dixon
Journal:  Eur J Hum Genet       Date:  2008-12-24       Impact factor: 4.246

5.  Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Authors:  Ewelina Bukowska-Olech; Anna Materna-Kiryluk; Joanna Walczak-Sztulpa; Delfina Popiel; Magdalena Badura-Stronka; Grzegorz Koczyk; Adam Dawidziuk; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-11-11       Impact factor: 4.599

6.  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

7.  Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.

Authors:  Bart J G Broeckx; Luc Peelman; Jimmy H Saunders; Dieter Deforce; Lieven Clement
Journal:  BMC Bioinformatics       Date:  2017-12-01       Impact factor: 3.169
  7 in total

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