Literature DB >> 1221956

[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?].

G Payet.   

Abstract

Five similar cases of children ranging from 6 months to 6 1/2 years of age are reported. The presented with dwarfism, generalized hyperlaxity, characteristic facial appearance, constant dislocations of elbows and knees. Bone-age was advanced and bones were slender and osteoporotic with metaphyseal thickening. All the cases appeared separately in normal families. These associated malformations resembled Larsen's syndrome, in spite of some different features.

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Year:  1975        PMID: 1221956

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  3 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.  Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Authors:  François Cartault; Patrick Munier; Marie-Line Jacquemont; Jeannine Vellayoudom; Bérénice Doray; Christine Payet; Hanitra Randrianaivo; Jean-Marc Laville; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-04-23       Impact factor: 4.246

3.  Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

Authors:  Delia Lorenz; Wolfram Kress; Ann-Kathrin Zaum; Christian P Speer; Helge Hebestreit
Journal:  BMC Pediatr       Date:  2021-06-30       Impact factor: 2.125

  3 in total

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