McCune-Albright sendromu
Albright sendromu
Etyolojisi bilinmiyor (Spontan)
Fibröz displazi kümesi sendromlarından
Kafatası kemikleri kalın (hiperostozis)
Kafa tabanı etkilenmesi sonucu foramenlerde daralma (işitme ve denge kusurları, epilepsi)
Paranazal sinüslerin küçülmesi
Kemiklerde multipl litik lezyonlar (poliostotik fibröz displazi)
Ekstremitelerde deformasyon ve kırıklar
Kraniyofasiyal kemiklerde asimetri (çıkıntılı zigomatik ve frontal kemikler)
Yüz asimetrik (çene kemiklerinde lezyonlar)
Maloklüzyon
Mukozal pigmentasyon görece seyrek
Poliostotik fibröz displazi lezyonları
Tüm kemikler etkilenir (öncelikle kafa tabanı kemikleri ve femurların proksimal metafizi)
Patolojik kırıklar
Osteosarkom riski
Deride pigmentasyon (café-au-lait): alın, ense, kalçalar
Endokrinopatiler (gonadlar ve tiroid): erken cinsel gelişme, hipertiroidizm, natal hiperkortizolizm
Hipofiz adenomu (growth hormon hipersekresyonu): gigantizm, akromegali PDF
Kızlarda 2 yaşından sonra mens
Erkeklerde testis ve penisin erken gelişmesi, jinekomasti
Sekonder cinsel niteliklerin erken oluşması
Fenotipler:
-
Jaffe-Lichtenstein sendromu: Yalnızca poliostotik fibröz displazi ve pigmentasyon
-
Mazabraud sendromu: Yalnızca poliostotik fibröz displazi ve miksomalar
-
Cohen MM Jr. Overgrowth syndromes: an update. Advances in Pediatrics, 46:441–491, 1999
-
Cohen MM, Neri G, Weksberg R. Overgrowth Syndromes. Oxford University Press, New York, 2002
-
Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 117C(1):49–56, 2003
-
Lumbroso S, Paris F, Sultan C. Activating Gs-alpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European collaborative study. Journal of Clinical Endocrinology & Metabolism, 89: 2107-2113, 2004
-
Favus MJ, American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 6th ed., American Society for Bone and Mineral Research, Washington DC, 2006
-
Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006
-
Diaz A, Danon M, Crawford J. McCune-Albright syndrome and disorders due to activating mutations of GNAS1. Journal of Pediatric Endocrinology and Metabolism, 20(8):853–880, 2007
-
Hart ES, Kelly MH, Brillante B, et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. Journal of Bone & Mineral Research, 22:1468–1474, 2007
-
Kelly MH, Brillante B, Collins MT. Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporosis International, 19:57–63, 2008
-
Zoccali C, Teori G, Prencipe U, Erba F. Mazabraud's syndrome: a new case and review of the literature. International Orthopaedics, 33:605–610, 2009
-
Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. Journal of Clinical Endocrinology & Metabolism, 99:1955–1969, 2014
-
Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015