Goldenhar综合征的研究现状

Goldenhar综合征是一种罕见的第一、二腮弓发育异常的遗传性先天缺陷，临床表现具高度多样性，除眼球皮样囊肿、耳畸形和脊柱异常外，还可见心脏和神经系统等的发育缺陷。本文系统阐述了Goldenhar综合征的临床特征与诊断、发病机制与病因、分子遗传学研究和临床治疗，对全面了解Goldenhar综合征有一定意义。     

Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。     

Goldenhar综合征三例

例 1　男 ,5个月。生后发现右眼球结膜、角膜包块 ,右耳前、右面颊部赘生物 ,右口角横行裂开。患儿系第 1胎 ,足月剖腹产 ,父母非近亲婚配 ,家族中无类似疾病史。体检 :面部对称 ,右口角向面颊部横行全层裂开 ,裂开长度 12 mm。右耳屏处有两个 7mm× 3mm的附耳 ,右面颊部有两个 10 mm× 5 mm的肉质赘生物。眼部检查 :右眼颞上方球结膜下有一黄色扁平柔软的肿物 ,边界不清 ,向眶内延伸。右眼颞下方角膜缘 7～ 9点钟处有 7mm× 2 mm的淡红色圆形扁平包块 ,质软而实 ,边界清楚 ,表面光滑 ,有几根纤细毛发生长 ,有血管侵入。其余未见异常。诊断 …     

Kallmann综合征的临床观察三例报告暨文献复习

报告3例Kallmann综合征的临床资料,并且结合文献对其发病机理、临床表现及诊治进行了讨论。正确诊断并及时给与激素替代治疗,可以最大限度的缓解患者的临床症状。     

Goldenhar综合征一家系五例

先证者(Ⅳ4)女,15岁,出生时即发现其左眼球有一赘生物,左侧耳屏前有一大一小两肿物。患者系第2胎足月顺产,父母非近亲婚配,母亲孕期健康,未服用药物。眼部检查:裸视左眼0.8,右眼1.5;双眼位正,眼球运动良好;双侧角膜透明,左侧角膜缘4点钟处有一肉红色半球形赘生物,质软而实,大小为6mm×4.5mm×1.0mm,境界清楚,未侵入角膜内,表面如皮革样粗糙,上有小血管密布及数根毛发,诊断为眼球皮样瘤(图1)。耳部检查:左侧耳屏前有一大一小两副耳,均无软骨(图2)。口腔检查:悬雍垂过短,右侧扁桃体Ⅲ度肿大,下颌后退。脊椎X片:未见异常。智力正常,心、肺未见…     

Kartagener综合征一例并文献复习

目的探讨Kartagener综合征的临床特点、诊断标准,以提高对Kartagener综合征认识。方法 Kartagener综合征1例。患儿,女,10岁余。因反复咳嗽1年,咯血4次入院。回顾性分析该患儿临床资料,检索国内外文献,进行总结分析。结果患儿隐匿起病,主要表现为反复咳嗽,咳脓痰,伴咯血。CT示双肺支扩伴感染,全内脏反位,鼻窦炎。经抗感染对症治疗1周后,临床症状消失出院。检索国内外文献发现,Kartagener综合征以全内脏反位,支气管扩张,副鼻窦炎三联征为诊断标准。治疗以对症治疗为主。结论 Kartagener综合征是一种罕见的常染色体隐性遗传病,加强对该病的认识,有利于提高对该病的诊断率,减少误诊率。对该病的致病基因、机制的进一步研究,可能提供更好的诊断和治疗方法。     

Silver-Russell综合征病例报道一例并文献复习

目的通过报道罕见的Silver-Russell综合征病例1例,并文献复习,了解该疾病的研究进展。方法对1例Silver-Russell综合征患儿的临床表现、实验室检查进行观察与分析并复习相关文献。结果确诊Silver-Russell综合征1例。结论 Silver-Russell综合征临床极少见,临床有遇到（1）宫内及生后生长发育迟缓;（2）典型面部特征：相对巨颅、三角脸等;（3）躯体不对称畸形;（4）喂养困难的患儿应警惕本病可能。本疾病临床表现非特异性,临床诊断困难,对高度可疑本病的患儿应行基因检查,一旦确诊应尽早采取重组人生长激素（GH）替代治疗等综合治疗,以改善患儿生存质量。     

Reiter综合征4例临床分析及文献复习

Ｒｅｉｔｅｒ综合征 (ＲＳ)系指具有急性尿道炎、关节炎和结膜炎 (眼炎 ) ,或者还有脓疱疹或皮肤红斑一组病征。国内报告多例 ,但小儿少见。本文报告 4例Ｒｅｉｔｅｒ综合征 ,并结合近10年文献予以分析。临床资料1 一般资料　 4例均为男性农村患儿 ,年龄分别为 5、9、10、12岁。 1例病前患“菌痢” ,1例病前 2周患“上感” ,2例未见诱因。2 临床表现　病初均发热 ,37.9- 39.8℃ ,以中高热为主 ,呈弛张型 ,持续 9- 32天 ,平均 17天 ,1例左踝关节痛 ,(病例 1) 10天后尿痛 ,排尿困难 ,19天畏光、流泪 ;1例左踝关节肿痛 ,2天后左膝关节肿痛伴双…     

肝豆状核变性合并肝性脊髓病2例报道及文献复习

目的：通过对肝豆状核变性合并肝性脊髓病l临床表现的分析,探讨其发病机制及诊治要点。方法：回顾性分析我院收治的2例肝豆状核变性合并肝性脊髓病患者的临床资料,并对相关文献进行复习。结果：2例患者均表现为缓慢进行性痉挛性截瘫,无肌肉萎缩、感觉障碍及括约肌功能障碍。化验检查均有铜生化的异常和角膜K—F环。经驱铜保肝营养神经治疗后症状改善。结论：在临床上遇到原因不明的肝脏损害、进行性痉挛性截瘫患者,除考虑到肝性脊髓病的可能外,应进一步检查铜生化和角膜有无K—F环,确定是否由肝豆状核变性引起,及早确诊以利及时治疗。     

马凡综合征一例报告及文献复习

目的通过报道少见的结缔组织病一马凡综合征,引起同行对该病的认识和重视。方法对马凡综合征病例进行回顾性分析并文献复习。结果经过临床物理检查及仪器辅助检查,该病例被诊断为马凡综合征。结论对诊断为马凡综合征的病人,应重视眼及心血管的病变,除保守治疗外,对有手术指征的病人,应予以积极治疗。     

儿童Andersen-Tawil综合征1例并文献复习

目的分析1例Andersen-Tawil综合征（ATS）患儿的诊断和治疗经过,提高对ATS的认识。方法报道1例基因确诊ATS患儿的临床特征及诊疗过程,并进行文献复习。结果患儿,女,12岁10个月,因＂意识丧失3 h伴抽搐＂入院。患儿既往有发作性双下肢无力及不明原因胸闷史。入院前3 h患儿在参加智力竞赛时突然晕倒、意识丧失、口唇发绀伴肢体抽动。查体神志不清,眼窝凹陷、眼距略宽,心律不齐,四肢呈迟缓性麻痹,脊柱、四肢无畸形。实验室检查示血清钾一过性降低。ECG检查示室性颤动、室性心动过速和频发多形性室性期前收缩。入院后予机械通气,胺碘酮和美托洛尔抗心律失常治疗,疗效欠佳,心律失常反复发作。基因检测示KCNJ2杂合错义突变：c.899 G〉T hetero,GGC〉GTC,p.G300V,确诊为ATS。出院后1个月余在外院植入心律转复除颤器（ICD）,并加用氟卡尼100 mg.d-1口服治疗。治疗后患儿心律失常减少,迄今随访8个月余,未见抽搐及晕厥发作,目前继续随访中。结论 ATS以室性心律失常,周期性麻痹,轻度面部和（或）骨骼发育异常为特征。心源性晕厥及心跳骤停不常见,但可危及生命,需植入ICD治疗。KCNJ2基因突变有助确诊。     

A case of Goldenhar syndrome associated with growth hormone deficiency

Summary We have experienced the case of a 10-year-old boy who had Goldenhar syndrome accompanied by growth hormone (GH) deficiency. His height increased after treatment with growth hormone was administered. We found no untoward effects of the hormone and we consider that treatment with GH is useful for patients who present with Goldenhar syndrome associated with growth hormone deficiency.     

Antley-Bixler syndrome from a prognostic perspective. Report of a case and review of the literature

The Antley-Bixler syndrome (ABS) is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Other findings include a trapezoid-shaped head, deformed ears, severe midface hypoplasia, choanal atresiaor stenosis, and long bone fractures. Most ABS cases have died in the firstmonths of life from respiratory complications. The poor prognosis in this condition makes counseling difficult and early termination of pregnancy a consideration. The medical and surgical management information presented herecan be used as a guide for counseling parents in the future. We report on a new patient with ABS who now at age 3 yr, has been followed by the medical staff of Riley Children's Hospital since birth. She has had successful medical and surgical management. Although the multisynostoses seen in this disorder is undoubtedly related to the soft tissue malformations such as choanal stenosis and midface hypoplasia, the cause remains unknown. The literature is also reviewed in this condition.     

The costello syndrome: Report of a case and review of the literature

Summary A 5-year-old girl with the Costello syndrome is reported. Her clinical manifestations included growth and developmental delay, a distinct facial appearance with sparse and curly hair, nasal papillomata, and dark loose skin of the hands and feet. These manifestations, especially nasal papilloma, an age-dependent anomaly, are distinct in the Costello syndrome.     

Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv(9qh+) chromosome. The mother's karyotype was 46,XX,inv(9qh+), while the father's was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient's birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reproted since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. © Wiley-Liss, Inc.     

Systemic sclerosis associated with moyamoya syndrome: A case report and literature review

Systemic sclerosis (SSc) associated with moyamoya syndrome (MMS) is a clinically rare disease. To further understand the clinical characteristics of SSc associated with MMS, we investigated and analyzed one case of SSc associated with MMS and conducted a literature review about this disease. Publications retrieved from MEDLINE and Wanfang databases were reviewed and discussed, and we found five well-described cases of SSc associated with MMS. The five patients had no family history of moyamoya disease, and the risk factors (cardiovascular disease) `were found in one of the five patients. The patients included in this study were more frequently female, and they often had limited or diffuse SSc. Unilateral involvement was frequently observed with clinical symptoms including hemiplegia, headache, loss of eyesight, and aphasia. The medical treatments included corticosteroids, immunosuppressive agents, antiplatelet agents, and anticoagulant therapy. The treatment with extra-intracranial revascularization was an effective treatment strategy for MMD and MMS. Unilateral MMD was more likely to be associated with SSc. The efficacy of corticosteroids and immunosuppressive agents was uncertain.     

1型葡萄糖转运体缺陷综合征一例报告及文献复习

目的总结1型葡萄糖转运体缺陷综合征的临床特点、实验室检查、分子遗传学诊断及生酮饮食治疗疗效。方法报告1例以痫样发作为首发的1型葡萄糖转运体缺陷综合征病例。检索国内外相关文献,共检索出明确诊断的1型葡萄糖转运体缺陷综合征32例,进行文献复习。结果包括作者报告1例患者,共33例,男19例,女14例。临床特点:27/33例有痫样发作,发作年龄2个月至35岁之间。大多发作年龄在6个月以内。25/33例有共济失调,大多数轻中度共济失调,少部分患者共济失调影响行走及日常生活。24/33例肌张力障碍。14/33例有小头畸形。实验室检查:30/33例患者进行了脑脊液糖检查,23-56mg/dl之间,平均34.2±4.7mg/dl。脑脊液糖/血糖0.24-0.57之间,平均0.38±0.07。21/33例患者进行了红细胞摄取3-O-甲基-D-葡萄糖的能力检查,结果显示红细胞摄取3-O-甲基-D-葡萄糖的能力较正常对照下降约50%左右。29/33例进行了脑电图检查,发现痫样放电25例,表现为多灶性棘波、棘慢波。32/33例患者进行了GLUT1-DS基因SLC2A1筛查,发现12例错义突变,2例无义突变,2例插入突变,16例缺失或剪切位点突变。治疗:所有癫痫患者均进行了抗癫痫药物治疗,痫样发作均难以控制。28/33例患者(25例癫痫患者和3例发作性运动障碍)进行了生酮饮食治疗。24例癫痫患者的痫样发作完全控制,1例痫样发作明显缓解。3例发作性运动障碍明显改善。结论 1型葡萄糖转运体缺陷综合征临床以难治性痫样发作、语言智能发育落后、脑脊液糖/血糖明显降低为特点,常规抗癫痫药物难以控制痫样发作,生酮饮食能够控制痫样发作,并对语言、认知、运动障碍均有改善作用。     

Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.

Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.