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Copyright V. Ventruto / A. Di Luccio Genus database 12491 hyalinosis, systemic, infantile Eponyms: Inheritance: mitochondrial supposed autosomal recessive Semeiological Arthro-cutaneous-facial disorder. postneonatal onset; cry with pain , when moved; thickening of the skin, joint contractures, gum hypertrophy, osteoporosis, failed to thrive, diarrhea, recurrent infections, widespread Synthesis: deposits of hyaline material. Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features cutis, thick GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea JOINT DISORDERS joint, changes, not including laxity and contractures joint pain, including pain when moved joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA infective agents bacterial infections recurrent infections, without specific humoral/cellular immunity tissue, biochemical changes lethality, in metabolic/immunological/environmental disorders mitochondrial defects OROCRANIOFACIAL ANOMALIES external ear malformations ear lobe, nodules, swelling facies, modified appearance facies, coarse lips, modified appearance lips, swelling, including nodules oral mucous membranes,changes gingival hyperplasia, gum hypertrophy, broad alveolar ridge OTHERS supergroups arthro-facio-respiratory-skeletal disorders arthro-facio-skeletal disorders RESPIRATORY DISORDERS respiratory distress respiratory infections, recurrent, including pneumonitis SKELETAL DISORDERS bones, lesions, structural changes osteoporosis fingers, modified form, deformity fingers, stiff knuckles, pigmentation ossification, changes osteopenia, bone hypodensity, demineralization of the bones, deficient ossification hyalinosis, systemic, infantile Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database stature, growth, modified habitus growth delayed, failure to thrive, growth retardation stature, short, including micromelia, including short limbs Super group: arthro-facio-respiratory-skeletal disorders Super aggreg. INFECTIONS SUSCEPTIBILITY recurrent infections, without specific humoral/cellular immunity Aggregations: LETHALITY lethality, in metabolic/immunological/environmental disorders Differential diagnosis: Bibliography hyalinosis, systemic, infantile 27418 Cat-Magdalena syndrome 12490 hyalinosis systemic, Alfi type 17160 Murray syndrome OMIM ID: 236490 Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.204 Page 2 of 2