Literature DB >> 4078872

The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

E Thompson, R Cadbury, M Baraitser.   

Abstract

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.

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Year:  1985        PMID： 4078872      PMCID： PMC1049491          DOI： 10.1136/jmg.22.5.408

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


  10 in total

1.  Nager acrofacial dysostosis: report of a case.

Authors:  B K Burton; H L Nadler
Journal:  J Pediatr       Date:  1977-07       Impact factor: 4.406

2.  [Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis].

Authors:  G Fontaine; J P Farriaux; P Delattre; Z Gidlecki; B Poupard; G Durieux; J J Piquet
Journal:  J Genet Hum       Date:  1974-12

3.  Congenital absence of the radius with hemifacial microsomia, ventricular septal defect and crossed renal ectopia.

Authors:  Y Sugiura
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

4.  Genetic polymorphism of the A subunit of human coagulation factor XIII.

Authors:  P G Board
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

5.  Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family.

Authors:  A Richieri-Costa; T R Gollop; G M Colletto
Journal:  Am J Med Genet       Date:  1983-02

6.  Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.

Authors:  F Halal; J Herrmann; P D Pallister; J M Opitz; M F Desgranges; G Grenier
Journal:  Am J Med Genet       Date:  1983-02

7.  Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

Authors:  D Tomkins; A Hunter; M Roberts
Journal:  Am J Med Genet       Date:  1979

8.  Acrofacial dysostosis with severe facial clefting and limb reduction.

Authors:  E L Kawira; D D Weaver; H A Bender
Journal:  Am J Med Genet       Date:  1984-03

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

Authors:  R A Pfeiffer; H Stoess
Journal:  Am J Med Genet       Date:  1983-06

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
  2 in total

Review 1.  Nager acrofacial dysostosis.

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

2.  A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Alexander Krebs; Franz Grill
Journal:  Cases J       Date:  2008-10-24
  2 in total

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