Literature DB >> 6655668

Severe cardiac anomalies in sibs with Larsen syndrome.

P Strisciuglio, G Sebastio, G Andria, S Maione, V Raia.   

Abstract

Larsen syndrome is characterised by congenital anterior dislocation of the knees, associated with other joint dislocations, and a characteristic facies. Autosomal recessive and dominant inheritance have been proposed. A brother and a sister with consanguineous parents, suggesting autosomal recessive inheritance, were found to have the typical features of Larsen syndrome. In addition, they had severe cardiac manifestations, never reported before in familial cases of the syndrome. We suggest that the recessive form is probably more severe than the dominant form because of the frequent presence of concomitant cardiac anomalies.

Entities:  

Mesh:

Year:  1983        PMID: 6655668      PMCID: PMC1049172          DOI: 10.1136/jmg.20.6.422

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


  6 in total

1.  Striking aortic root dilatation in a patient with the Larsen syndrome.

Authors:  R E Swensson; A C Linnebur; S B Paster
Journal:  J Pediatr       Date:  1975-06       Impact factor: 4.406

2.  [The Larsen syndrome. With reference to three new cases (author's transl)].

Authors:  C Fauré; J P Lascaux; J P Montagne
Journal:  Ann Radiol (Paris)       Date:  1976-10

3.  Larsen's syndrome;.

Authors:  F W Robertson; K Kozlowski; R W Middleton
Journal:  Clin Pediatr (Phila)       Date:  1975-01       Impact factor: 1.168

4.  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

5.  The Larsen syndrome and glial proliferation in the brain.

Authors:  P Henriksson; S Ivarsson; G Theander
Journal:  Acta Paediatr Scand       Date:  1977-09

6.  Multiple joint dislocations and peculiar facies.

Authors:  P A Lee
Journal:  Am J Dis Child       Date:  1973-12
  6 in total
  5 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

2.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

3.  GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Authors:  Nisha Patel; Hanan E Shamseldin; Nadia Sakati; Arif O Khan; Ameen Softa; Fatima M Al-Fadhli; Mais Hashem; Firdous M Abdulwahab; Tarfa Alshidi; Rana Alomar; Eman Alobeid; Salma M Wakil; Dilek Colak; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

4.  Aneurysm of the ductus arteriosus in a patient with Larsen syndrome.

Authors:  Bo-Kyung Je; So-Young Yoo; Whal Lee; Woo Sun Kim; In-One Kim
Journal:  Pediatr Radiol       Date:  2006-09-28

5.  Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Authors:  N Riise; B R Lindberg; M A Kulseth; S O Fredwall; R Lundby; M-E Estensen; L Drolsum; E Merckoll; K Krohg-Sørensen; B Paus
Journal:  BMC Med Genet       Date:  2018-08-31       Impact factor: 2.103

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.