Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency.
We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.
Wenstrup
R J
RJ
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
Murad
S
S
Pinnell
S R
SR
D001827:Body Height; D002318:Cardiovascular Diseases / Q000453:epidemiology; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism*; D004535:Ehlers-Danlos Syndrome / Q000201:enzymology* / Q000503:physiopathology; D005128:Eye Diseases / Q000453:epidemiology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D010641:Phenotype; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000172:deficiency*; D012867:Skin / Q000473:pathology
D003094:Collagen; D006899:Mixed Function Oxygenases; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase