Literature DB >> 7205899

Pitfalls of genetic counselling in Pfeiffer's syndrome.

M Baraitser, M Bowen-Bravery, P Saldaña-Garcia.   

Abstract

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

Entities:  

Mesh：

Year:  1980        PMID： 7205899      PMCID： PMC1048564          DOI： 10.1136/jmg.17.4.250

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


  5 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.  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

3.  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

4.  Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Authors:  C E Jackson; L Weiss; W A Reynolds; T F Forman; J A Peterson
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406

5.  The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis.

Authors:  V Escobar; D Bixler
Journal:  Clin Genet       Date:  1977-04       Impact factor: 4.438
  5 in total
  4 in total

1.  Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Authors:  W Reardon; D Wilkes; P Rutland; L J Pulleyn; S Malcolm; J C Dean; R D Evans; B M Jones; R Hayward; C M Hall; N C Nevin; M Baraister; R M Winter
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

Authors:  L van Herwerden; C S Rose; W Reardon; L A Brueton; J Weissenbach; S Malcolm; R M Winter
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

3.  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

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

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