Literature DB >> 2845086

Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.

T W Kurczynski1, S M Casperson.   

Abstract

A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.

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Year:  1988        PMID: 2845086      PMCID: PMC1050527          DOI: 10.1136/jmg.25.7.491

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


  1 in total

1.  [DOMINANT HEREDITARY ACROCEPHALOSYNDACTYLIA].

Authors:  R A PFEIFFER
Journal:  Z Kinderheilkd       Date:  1964-09-16
  1 in total
  5 in total

1.  Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

Authors:  A O Wilkie; S P Yang; D Summers; M D Poole; W Reardon; R M Winter
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 2.  Saethre-Chotzen syndrome.

Authors:  W Reardon; R M Winter
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

3.  Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

Authors:  H G Brunner; R M Winter
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

4.  Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

Authors:  E Legius; J P Fryns; H Van den Berghe
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

5.  Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome?

Authors:  Matthias Dettmer; Peter Itin; Peter Miny; Manoj Gandhi; Gieri Cathomas; Niels Willi
Journal:  Diagn Pathol       Date:  2011-08-10       Impact factor: 2.644

  5 in total

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