Literature DB >> 2769726

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

E Legius1, J P Fryns, H Van den Berghe.   

Abstract

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.

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Year:  1989        PMID: 2769726      PMCID: PMC1015676          DOI: 10.1136/jmg.26.8.522

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


  4 in total

1.  Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

Authors:  J M Friedman; J W Hanson; C B Graham; D W Smith
Journal:  J Pediatr       Date:  1977-12       Impact factor: 4.406

2.  Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.

Authors:  T W Kurczynski; S M Casperson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

3.  The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

Authors:  Z Kopyść; M Stańska; J Ryzko; B Kulczyk
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  A family study of craniosynostosis, with probable recognition of a distinct syndrome.

Authors:  C O Carter; K Till; V Fraser; R Coffey
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

  4 in total
  2 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

  2 in total

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