Abstract: There are some developmental disorders children with distinctive facies or unusual behaviors in pediatric developmental clinic.Doctors can learn the differential diagnosis from their distinctive facies or unusual behaviors just like Down syndrome.William syndrome,Cornelia De Lange syndrome,fragile X syndrome,Rett syndrome,DiGeorge syndrome and Prader-Willi syndrome are the common developmental disorders with distinctive facies or unusual behaviors.Williams syndrome should be noted among hyperaction children.Except for hyperaction,Williams syndrome children also show excessively lively and enthusiastic behavior with the distinctive facies of periorbital fullness,malar flattening,long philtrum,wide mouth and short nose.DiGeorge syndrome can be found among delayed speech or dysarthria children.Palatopharyngeal dysfunction,learning disabilities and facial abnormalities,such as small jaw,low ear and abnormal auricle,can also be found meanwhile.Williams syndrome and DiGeorge syndrome can be diagnosed by the MLPA or array- CGH technology with 7q11.2 and 22q11.2 microdeletion respectively.Cornelia de Lange syndrome should be noted among developmental retardation or short stature children.Meanwhile,distinctive facies also can be found,such as synophrys,arched eyebrows,long curve and dense eyelashes,hairy forehead,short nose,long philtrum.This disease can be diagnosed by the analysis of NIPBL gene,SMC1A gene,SMC3 gene,RAD21 gene and HDAC8 gene,of which the NIPBL gene mutations are above 50%.Fragile X syndrome should be noted in the males of autism or mental retardation,and it is with the distinctive facial features,including long face,large ears,prominent forehead,prominent jaw,large mouth and high palatine arch.It can be diagnosed by FMR1 gene analysis.Rett syndrome should be alert in female autism with development retardation or retrogression.It is characterized by stereotypic movements of the hands,including wring hands,claping hands,beating,biting hands and rubbing hands.It can be done by MECP2 gene analysis.Prader-Willi syndrome should be paid attention to among malnutrition,growth failure or development retardation in the early life or obesity during childhood.In addition,distinctive facial features also can be found,including long head,narrow bifrontal diameter,almond-shaped eyes,small mouth,thin upper lip,downward angulus oris.It is caused by the deletion of the paternal copies of the imprinted genes within the chromosome region 15q11-q13,and MS-MLPA technology can be used for diagnosis.

Key words: William syndrome, Cornelia De Lange syndrome, fragile X syndrome, Rett syndrome, DiGeorge syndrome, Prader-Willi syndrome, developmental disorders

摘要： 在发育儿科门诊中,经常会遇到一些伴有特殊面容或特殊行为的发育障碍儿童,临床医生可以像掌握唐氏综合症特殊面容那样,通过识别这些发育障碍儿童的特殊面容或行为疑诊为某种疾病。伴有特殊面容或行为的常见发育障碍疾病包括William综合征,Cornelia de Lange综合征,脆性X综合征,Rett综合征,DiGeorge综合征及Prader-Willi综合征。对于以多动症为主诉的患儿,应注意William综合征,该病除了有多动的表现之外,还伴有过度活泼,热情,常见的特殊面容有眶周丰满,面颊突出,嘴唇厚,嘴巴宽,人中长,鼻梁扁平。对于语言发育迟缓或构音障碍为主诉的患儿,应注意 DiGeorge综合征,DiGeorge综合征除了语言发育迟缓或/和构音障碍以外,还伴有腭咽功能不全,学习障碍,以及小下颌、低耳位和耳廓异常等特殊面容。怀疑William综合征及DiGeorge综合征时需要做MLPA或array-CGH检查,二者分别为7q11.2及22q11.2微缺失。另外,在发育迟缓或矮小的患儿当中,还应注意Cornelia de Lange综合征,该病除了发育迟缓及矮小的表现外,还伴有连眉,弓形眉,睫毛长且弯曲浓密,前额多毛,鼻梁扁平,短鼻、鼻孔前倾,人中长等特殊面容,确诊本病需要做NIPBL基因、SMC1A基因、SMC3基因、RAD21基因 及HDAC8基因分析,其中NIPBL基因突变达50%以上。在男性孤独症或智力低下的患儿中,应注意脆性X综合征,该病除了孤独症及智力低下表现,还伴有脸形较长,双耳明显大,前额和下颌突出,嘴大唇厚,高腭弓等特殊面容,确诊需要做FMR-1基因分析。在女性孤独症、发育迟缓或发育倒退的患儿中,应注意Rett综合征,Rett综合征除了有上述表现,还伴有手的刻板动作(绞手、拍手、拍打、咬手、搓手等),确诊需要做MECP2基因分析。在婴幼儿期表现为营养不良、体重不增或发育迟缓以及儿童期表现为肥胖的患儿中,应注意Prader-Willi综合征,Prader-Willi综合征除了上述表现外,还伴有头颅长、窄脸、杏仁眼、小嘴、薄上唇、嘴角向下等典型的特殊面容,该病为父源染色体15q11.2-q13区域印记基因的功能缺陷所致,确诊需要MS-MLPA技术。

关键词: William综合征, Cornelia de Lange综合征, 脆性X综合征, Rett综合征, DiGeorge综合征, Prader-Willi综合征, 发育障碍