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Summary
EHLERS DANLOS SYNDROME TYPE IX
CUTIS LAXA, X-LINKED OCCIPITAL HORN SYNDROME
304150
OMIM = Online Medalian Inheritance of Men
198
Xq21.1
rare
X-linke
symptoms
arachnodyctyly
behavior, abnormal or bizarre, confusion
bladder divertikulae
cutis laxa
decreased muscle volume, atrophy or hypoplasia
diarrhea
hair, abnormal (thin, brittle)
hernia
hydronephrosis
hypotension
joint hypermobilty, dislocations
limb abnormalities, limb deformities
mental retardation
skin defects
skin, abnormal
X-ray, abnormalities
laboratory finding
Copper 20.0070.00decreasedserum
Ceruloplasmin 15.0050.00decreasedserum
Pyridinoline 7.0014.00decreasedurine
Deoxypyrodinoline 1.303.70decreasedurine
crosslinks
Lysyl oxidase decreased activityfibroblasts
Literature
Gennip AHAbeling NGGM, Stromer AEM, Overmars H, Bakker HDThe Detection of Molybdenum Cofactor Deficiency: Clinical Symptomatology and Urinary Matabolite ProfileJ Inherit Metab Dis170142-1451994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Gravel RAClarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki KThe GM2 gangliosidosesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2922839-28791995
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991