PHACES综合征

PHACES综合征
PHACES综合征
类型	multiple abnormalities[]、症候群、斑痣性错构瘤病、Moyamoya syndrome[]、vascular tumor with associated anomalies[]、rare genetic vascular tumor[]、palpebral tumor with a vascular malformation[]、脑癌[]、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[]
分类和外部资源
醫學專科	醫學遺傳學
OMIM	606519
DiseasesDB	34139
Orphanet	42775
	[编辑此条目的维基数据]

PHACES综合征，即颅后窝畸形（P，posterior fossa malformations）-血管瘤（H，hemangiomas）-动脉异常（A，arterial anomalies）-心脏缺损（C，cardiac defects）-眼部异常（E，eye abnormalities）-胸骨裂隙和脐上囊肿（S，sternal cleft and supraumbilical raphe）综合征是一种涉及多个系统畸形的先天性皮肤疾病。^[1]^[2]

参考资料

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. Dermatology: 2-Volume Set. St. Louis: Mosby. 2007. ISBN 1-4160-2999-0.
^ 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.

[Bolognia-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.

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