Literature DB >> 14779259

Multiple congenital dislocations associated with characteristic facial abnormality.

L J LARSEN, E R SCHOTTSTAEDT, F C BOST.   

Abstract

Keywords:  DISLOCATIONS; FACE

Mesh：

Year:  1950        PMID： 14779259     DOI： 10.1016/s0022-3476(50)80268-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  57 in total

1.  Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.

Authors:  S Jéquier; G Perreault; P Maroteaux
Journal:  Pediatr Radiol       Date:  1992

2.  Larsen syndrome in two generations of an Italian family.

Authors:  V Ventruto; F Festa; L Sebastio; G Sebastio
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

Review 3.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

4.  Larsen syndrome--lethal variety.

Authors:  M L Kulkarni; Zaheeruddin Mohammed; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-12       Impact factor: 1.967

5.  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

6.  Pneumoperitoneum in a patient with Larsen syndrome.

Authors:  Satoki Inoue; Yasumitsu Nomura; Masahiko Kawaguchi
Journal:  J Anesth       Date:  2013-11-09       Impact factor: 2.078

7.  Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings.

Authors:  Qiming Xu; Nan Wu; Lijia Cui; Mao Lin; D Thirumal Kumar; C George Priya Doss; Zhihong Wu; Jianxiong Shen; Xiangjian Song; Guixing Qiu
Journal:  Am J Transl Res       Date:  2018-05-15       Impact factor: 4.060

8.  Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.

Authors:  Anji T Yetman; Rebecca S Beroukhim; Dunbar D Ivy; David Manchester
Journal:  Pediatrics       Date:  2007-05       Impact factor: 7.124

Review 9.  Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.

Authors:  Shuji Mizumoto; Shiro Ikegawa; Kazuyuki Sugahara
Journal:  J Biol Chem       Date:  2013-03-01       Impact factor: 5.157

10.  Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature.

Authors:  Ali Al Kaissi; Johannes Altenhuber; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2009-06-17
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