En cualquier momento esta dispuesto a recoger sus canicas e irse a casa. Showing results for sindrome deusher filter results. Corneal clouding, cutis laxa and intellectual disability. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria premature aging. I sintomi includono cutis laxa ma anche anormalita dellocchio, musculoscheletriche e. I sintomi includono cutis laxa ma anche anormalita dellocchio, musculoscheletriche e neurologiche. Clinical presentation of a patient with cutis laxa with systemic. Rodriguez herrera r, carbajal rodriguez l, duran mckinster c, staines boon at, cipres cruces b, carrasco daza d. Posterior reversible encephalopathy syndrome pres during. Symptoms include cutis laxa loose hanging skin as well as other eye, musculoskeletal, and neurological abnormalities. Search genetic and rare diseases information center. Questa voce contiene una traduzione, completa o parziale, della voce originale.
E solitamente progressiva, e genera complicanze che possono includere opacita corneale, cataratta, bassa statura, distonia o progeria. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. The disorder is now classified as a form of cutis laxa and also known as autosomal recessive cutis laxa type 3. Cutis laxa is characterized by skin that is loose lax, wrinkled, sagging, and lacking elasticity. E una delle circa 30 persone al mondo a soffrire di una rarissima malattia genetica autosomica recessiva, chiamata sindrome.
If you have problems viewing pdf files, download the latest version of adobe reader. Search genetic and rare diseases information center gard. Cutis laxaopacidad cornealdiscapacidad intelectual. Characteristic features include severe mental retardation, hypermobility with athetoid m.
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