Caffey-Silverman sendromu
Caffey hastalığı
Infantile cortical hypertostosis
Kalıtsal - AD
İlk belirtiler 6 aylıktan önce
Massif subperiostal kemik yapımı
Yüzde yumuşak doku şişlikleri
Kemik kortekslerinde kalınlaşma
Kalın altçene (sık ve belirgin)
Kaba maksilla
Yüzde altçene boyunca şiş görünüm
Maloklüzyon
Tibia yay biçiminde
Etkilenen öteki kemikler: klavikula, ulna, femur, kostalar, humerus, fibula
Toraks ve ekstremitelerde yumuşak doku şişlikleri
Ağrı, ateş, anemi, lökositoz, yüksek sedimentasyon
Ağrılar 2 yaşında azalır
Deride kırmızılıklar
Serum alkalin fosfataze düzeyinde yükselme
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Schweiger S, Chaoui R, Tennstedt C, et al. Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. American Journal of Medical Genetics A, 120A:547–552, 2003
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Gensure RC, Mäkitie O, Barclay C, et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Journal of Clinical Investigation. 115(5):1250-1257, 2005
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Kamoun-Goldrat A, le Merrer M. Infantile cortical hyperostosis (Caffey disease): a review. Journal of Oral & Maxillofacial Surgery, 66:2145–2150, 2008
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Al Kaissi A, Petje G, DeBrauwer V, et al. Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. Cases Journal, 2:133–136, 2009
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Cerruti-Mainardi P, Venturi G, Spunton M, et al. Infantile cortical hyperostosis and COL1A1 mutation in four generations. European Journal of Pediatrics, 170:1385–1390, 2011