Literature DB >> 1018317

Larsen syndrome in two generations of an Italian family.

V Ventruto, F Festa, L Sebastio, G Sebastio.   

Abstract

This paper describes a familial case of Larsen syndrome. Typical anomalies were present in the propositus and 2 of his 6 daughters. In addition, all patients had progressive deafness and the 2 daughters had cleft palate. The certain exclusion of any consanguinity between the couple, suggests, in this instance, the dominant mode of transmission of the syndrome.

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Year:  1976        PMID： 1018317      PMCID： PMC1013491          DOI： 10.1136/jmg.13.6.538

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


  4 in total

1.  Multiple congenital dislocations associated with characteristic facial abnormality.

Authors:  L J LARSEN; E R SCHOTTSTAEDT; F C BOST
Journal:  J Pediatr       Date:  1950-10       Impact factor: 4.406

2.  [Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate].

Authors:  F N Silverman
Journal:  Ann Radiol (Paris)       Date:  1972 Mar-Apr

3.  Autosomal dominant inheritance in Larsen's syndrome.

Authors:  R Harris; C H Cullen
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

4.  Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.

Authors:  R J Latta; C B Graham; J Aase; S M Scham; D W Smith
Journal:  J Pediatr       Date:  1971-02       Impact factor: 4.406
  4 in total
  1 in total

1.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318
  1 in total

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