UNASSIGNED: The musculocontractural type of @entity4243 (MC- @entity15354 ) has been recently recognized as a clinical entity. MC- @entity15354 represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty-one and three @entity1 have been reported with MC- @entity15354 so far with bi-allelic mutations identified in @entity68332 and DSE, respectively, encoding two enzymes necessary for dermatan @entity597 (DS) biosynthesis. We report seven additional @entity1 with MC- @entity15354 from four unrelated families, including the follow-up of a sib-pair originally reported with the kyphoscoliotic type of @entity15354 in 1975. @entity91 , a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous @entity1410 are always present. Three of seven @entity1 had mildly elevated serum @entity908 kinase. The oldest @entity1 was blind due to @entity1713 at 45 years and died at 59 years from @entity510 ; her affected brother died at 28 years from fulminant @entity884 . All @entity1 in this series harbored homozygous, predicted loss-of-function @entity68332 mutations. Indeed, DS was not detectable in fibroblasts from two unrelated @entity1 with homozygous mutations. @entity1 fibroblasts produced higher amounts of @entity12006 , showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one @entity1 , all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC- @entity15354 .    2015 Wiley Periodicals, Inc.

The phenotype of the musculocontractural type of XXXX due to @entity68332 mutations.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'Patient'] @entity15354 :: ('MESH:C536194', 'Disease') :: ['EDS'] @entity510 :: ('MESH:D013345', 'Disease') :: ['intracranial bleeding'] @entity1713 :: ('MESH:D012163', 'Disease') :: ['retinal detachment'] @entity908 :: ('MESH:D003401', 'Chemical') :: ['creatine'] @entity12006 :: ('MESH:D002809', 'Chemical') :: ['chondroitin sulfate'] @entity884 :: ('MESH:D004696', 'Disease') :: ['endocarditis'] @entity4243 :: ('MESH:D004535', 'Disease') :: ['Ehlers-Danlos syndrome'] @entity1410 :: ('MESH:D006406', 'Disease') :: ['hematomas'] @entity68332 :: ('113189', 'Gene') :: ['CHST14'] @entity91 :: ('MESH:D003398', 'Disease') :: ['Brachycephaly'] @entity597 :: ('CHEBI:16189', 'Chemical') :: ['sulfate']
@entity4243 :: (MESH:D004535,Disease) :: ['Ehlers-Danlos syndrome']
