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EHLER DANLOS SYNDROME- ARTHROCHALASIS TYPE

DINESH PRABHU S

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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References


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