Literature DB >> 7120317

An unusual form of familial acrocephalosyndactyly.

I D Young, P S Harper.   

Abstract

A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.

Entities:  

Mesh：

Year:  1982        PMID： 7120317      PMCID： PMC1048895          DOI： 10.1136/jmg.19.4.286

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


  7 in total

1.  Acrocephalopolysyndactyly, type Noack, in a large kindred.

Authors:  M Robinow; T J Sorauf
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  On the classification of the acrocephalosyndactyly syndromes.

Authors:  V Escobar; D Bixler
Journal:  Clin Genet       Date:  1977-09       Impact factor: 4.438

3.  Familial acrocephalosyndactyly (Pfeiffer syndrome).

Authors:  R M Saldino; H L Steinbach; C J Epstein
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1972-11

4.  Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes.

Authors:  J T Martsolf; J B Cracco; G G Carpenter; A E O'Hara
Journal:  Am J Dis Child       Date:  1971-03

5.  Variable expression in Pfeiffer syndrome.

Authors:  H M Sanchex; T C De Negrotti
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

Review 6.  Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.

Authors:  M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1979

7.  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
  7 in total
  6 in total

1.  Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Authors:  Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

2.  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 3.  Saethre-Chotzen syndrome.

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

4.  The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Authors:  L A Brueton; L van Herwerden; K A Chotai; R M Winter
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

5.  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

6.  A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

Authors:  Arpita Rai Thakur; Venkatesh G Naikmasur
Journal:  Indian J Dent       Date:  2014-04
  6 in total

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