Premium
Ehlers‐Danlos syndrome: yet another type?
Author(s) -
Viljoen Denis,
Goldblatt Jack,
Thompson Dave,
Beighton Peter
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03354.x
Subject(s) - joint hypermobility , ehlers–danlos syndrome , connective tissue , connective tissue disorder , medicine , osteogenesis imperfecta , anatomy , dermatology , pathology
A mother and her four children had gross generalized joint laxity, with multiple dislocations and subluxations, moderate skin hyperextensibility and mild connective tissue fragility. Their condition could be categorized in the Ehlers‐Danlos syndrome Type III or the familial undiffer‐entiated hypermobility group of disorders, but differed from these conditions by virtue of the severity of articular complications and the presence of wormian bones in the skulls. We consider that these patients have an undelineated connective tissue disorder; attempts at characterization at the molecular level are underway.