EHLER DANLOS SYNDROME- ARTHROCHALASIS TYPE
Abstract
The Ehlers-Danlos syndromes (EDS) form a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by joint hypermobility, tissue fragility and skin abnormalities. Six subtypes have been well characterized based on clinical features and molecular genetic abnormalities. The arthrochalasia type EDS (formerly type VIIa and VIIb) is a extremely rare condition characterized by severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features. We report a 7 year old girl who presented with joint hyper mobility and bilateral dislocation of hips. This was a case of EDS- ARTHROCHALASIS type. This case is being reported
for its rarity. Till date only 30 cases have been reported in literature worldwide.
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Nelson textbook of pediatrics 20 th edition
Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood,Clin Genet. 2012 August ; 82(2): 121–130. doi:10.1111/j. 1399-0004.2011.01758.x.
Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77:31–37. [PubMed: 9557891]
Yen JL, Lin SP, Chen MR, et al. Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc. 2006; 105:475–480. [PubMed: 16801035
Giunta C, Superti-Furga A, Spranger S, et al. Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am. 1999; 81:225–238. [PubMed: 10073586]
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