Literature DB >> 9429152

Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.

A E Czeizel1, P Göblyös.   

Abstract

A healthy, non-consanguineous couple had a son with complete situs inversus viscerum (including dextrocardia but without other cardiac defects), broad thumbs and big toes, postaxial polydactyly, average intelligence and length proportion of the extremities, and a normal face. The common cause of these defects may have a role in the origin of sidedness and symmetry in morphogenesis.

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Year:  1997        PMID: 9429152      PMCID: PMC1051161          DOI: 10.1136/jmg.34.12.1033

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


  12 in total

1.  Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases.

Authors:  B I IVEMARK
Journal:  Acta Paediatr Suppl       Date:  1955-11

2.  Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse.

Authors:  W M Layton
Journal:  J Hered       Date:  1976 Nov-Dec       Impact factor: 2.645

Review 3.  Pass the butter...

Authors:  G Martin
Journal:  Science       Date:  1996-10-11       Impact factor: 47.728

4.  The study of genetic variation in Nigeria. II. The genetics of polydactyly.

Authors:  A B Scott-Emuakpor; E D Madueke
Journal:  Hum Hered       Date:  1976       Impact factor: 0.444

5.  Familial situs inversus and congenital heart defects.

Authors:  J Zlotogora; M S Schimmel; Y Glaser
Journal:  Am J Med Genet       Date:  1987-01

6.  A and B postaxial polydactyly in two members of the same family.

Authors:  V Ventruto; G Theo; A Celona; G Fioretti; L Pagano; M Stabile; M L Cavaliere
Journal:  Clin Genet       Date:  1980-11       Impact factor: 4.438

7.  Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family.

Authors:  G L Arnold; D Bixler; D Girod
Journal:  Am J Med Genet       Date:  1983-09

8.  Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.

Authors:  B Casey; M Devoto; K L Jones; A Ballabio
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

9.  Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

Authors:  S H Britz-Cunningham; M M Shah; C W Zuppan; W H Fletcher
Journal:  N Engl J Med       Date:  1995-05-18       Impact factor: 91.245

10.  Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

Authors:  L A Lowe; D M Supp; K Sampath; T Yokoyama; C V Wright; S S Potter; P Overbeek; M R Kuehn
Journal:  Nature       Date:  1996-05-09       Impact factor: 49.962

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