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PHACES綜合症

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PHACES綜合症
類型multiple abnormalities[*]綜合症斑痣性錯構瘤病Moyamoya syndrome[*]vascular tumor with associated anomalies[*]rare genetic vascular tumor[*]palpebral tumor with a vascular malformation[*]腦癌[*]multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[*]central nervous system vascular malformation[*]rare syndrome with cardiac malformations[*]rare genetic epilepsy[*]genetic skin vascular disorder[*]syndrome with a cerebellar malformation as major feature[*]
分類和外部資源
醫學專科醫學遺傳學
OMIM606519
DiseasesDB34139
Orphanet42775
[編輯此條目的維基數據]

PHACES綜合症,即顱後窩畸形(P,posterior fossa malformations)-血管瘤(H,hemangiomas)-動脈異常(A,arterial anomalies)-心臟缺損(C,cardiac defects)-眼部異常(E,eye abnormalities)-胸骨裂隙和臍上囊腫(S,sternal cleft and supraumbilical raphe)綜合症是一種涉及多個系統畸形的先天性皮膚疾病。[1][2]

參考資料

[編輯]
  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. Dermatology: 2-Volume Set. St. Louis: Mosby. 2007. ISBN 1-4160-2999-0. 
  2. ^ Hartemink DA, Chiu YE, Drolet BA, Kerschner JE. PHACES syndrome: a review. Int. J. Pediatr. Otorhinolaryngol. February 2009, 73 (2): 181–7. PMID 19101041. doi:10.1016/j.ijporl.2008.10.017.