图1
附NCPs分类统计Venn图 根据受累神经嵴细胞发育过程对神经嵴病进行分类,重叠部分清楚地显示了某些NCPs归因于多个过程发育受阻。 Abbreviations of NCPs described in this article: TCS: Treacher Collins syndrome Treacher Collins综合征;KS: Kallmann Syndrome Kallmann综合征;PRS: Pierre Robin Sequence皮埃尔·罗宾序列;HPE: holoprosencephaly前脑无裂畸形;HH: hypogonadotropic hypogonadism 性腺功能减退症;MBS: Moebius Syndrome莫比乌斯综合征;3MC: 3MC Syndrome 3MC综合征;ADULT: ADULT Syndrome ADULT综合征;AEC: AEC Syndrome AEC综合征;AS: Alagille Syndrome Alagille综合征;BOR: Branchio-Oto-Renal Syndrome鳃-耳-肾综合征;CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy大脑常染色体显性动脉病变伴皮层下梗死和白质脑病;CDHS: Craniofacial-Deafness-Hand Syndrome 颅面-耳聋-手综合征;GCMN: Giant Congenital Melanocytic Nevi巨大先天性黑素细胞痣;NF1: Neurofibromatosis I Ⅰ型神经纤维瘤;WS: Waardenburg syndrome瓦登伯格综合征;CED: Cranioectodermal dysplasia/Sensenbrenner syndrome颅骨外胚层发育不良/Sensenbrenner综合征;EEC3: EEC3 syndrome EEC3综合征;EVC: Ellis-van Creveld syndrome软骨外胚层发育不良;FASD: Fetal Alcohol Spectrum Disorder胎儿酒精谱系障碍;GDFD: Growth Retardation, Developmental Delay, and Facial Dysmorphism生长迟缓,发育迟缓,面部畸形;HCS: Hajdu-Cheney Syndrome Hajdu-Cheney综合征;FS: Klippel-Feil Syndrome先天性短颈综合征;LMS: Limb-Mammary Syndrome四肢-乳腺综合征;MFDA: Mandibulofacial Dysostosis with Alopecia颌面部发育不良伴脱发;MS: Multiple sclerosis多发性硬化症;NAD: Nager Acrofacial Dysostosis Nager综合征;NS: Noonan syndrome Noonan综合征;PA: Peters Anomaly Peter异常/前段发育不良;PHACE: PHACE Syndrome PHACE综合征;SAMS: SAMS disorder SAMS异常;SHFM4: Split-hand/split-foot malformation type 4裂手/裂脚畸形4型;TDO: Tricho-dento-osseous syndrome毛齿骨综合征;22q11: 22q11.2 Deletion Syndrome (DGS) 22q11.2缺失综合症;AAA: Achalasia- Addisonianism-Alacrima Syndrome AAA综合征;ACS: Auriculo Condylar Syndrome耳廓-髁状突综合征;ARS: Axenfeld- Rieger Syndrome Axenfeld-Rieger综合征;BLS: Bamforth-Lazarus syndrome Bamforth-Lazarus综合症;BOFS: Branchio-Oculo-Facial Syndrome 鳃-眼-面部综合征;BS: Binder Syndrome Binder综合征;CCHS: Congenital Central Hypoventilation Syndrome先天性中枢性通气不足综合征;CHARGE: CHARGE syndrome CHARGE综合征;CMT: Charcot-Marie-Tooth and Deafness Syndrome腓骨肌萎缩症和耳聋综合症;CS: Craniosynostosis颅缝早闭;DBA: Diamond Blackfan Anemia先天性再生障碍性贫血;FD: Familial dysautonomia家族性自主神经障碍;FMTC: Familial medullary thyroid carcinomas家族性甲状腺髓样癌;HFM: Hemifacial microsomia半侧颜面短小."