Treacher—Collins综合征附2例报告

Ｔｒｅａｃｈｅｒ－Ｃｏｌｌｉｎｓ综合征临床并非罕见，在遗传性质方面国内外论著大多将其划归为常染色体显性遗传，但也有报导常染色体隐性遗传者，本文介绍了２例同胞兄弟同患Ｔｒｅａｃｈｅｒ－Ｃｏｌｌｉｎｓ综合征病例，并就该病的病因，发病机理，遗传学特性，诊断及治疗等方面进行了讨论。     

Usher综合征

Ｕｓｈｅｒ综合征 (ＵｓｈｅｒＳｙｎｄｒｏｍｅ,ＵＳ)又称遗传性耳聋 -色素性视网膜炎综合征 ,视网膜色素变性 -感音神经性耳聋综合征 ,聋哑伴视网膜色素变性综合征等。是以先天性感音神经性聋、渐进性视网膜色素变性而致视野缩小、视力障碍为主要表现的一种常染色体隐性遗传性疾病 ,具有遗传异质性。 185 8年ＶｏｎＧｒａｅｆｅ首先发现聋哑合并视网膜色素变性病例。 1914年英国眼科学家ＣｈａｒｌｅｓＵｓｈｅｒ调查了视网膜色素变性人群中耳聋的发病率 ,首次提出耳聋 -视网膜色素变性与遗传因素有关。 1972年Ｈｏｌｌａｎｄ等将该病正式…     

非综合征性耳聋患者连接蛋白26基因突变的研究

目的 探讨中国人非综合征性耳聋患者连接蛋白２６（ｃｏｎｎｅｘｉｎ２６，Ｃｘ２６）基因突变频率和特性。方法 收集中国散发先天性聋哑儿童１６例，常染色体隐性遗传性聋３９例（３９个家系），１０岁前的听力下降的常染色体显性遗传性聋３０例（３０个家系）和健康对照组１００例。聚合酶链反应－单链构象多态（ｓｉｎｇｌｅ ｓｔｒａｎｄ ｃｏｎｆｏｒｍａｔｉｏｎａｌ ｐｏｌｙｍｏｒｐｈｉｓｍ ａｎａｌｙｓｉｓ ｏｆ     

遗传性无综合征耳聋一家系畸变产物耳声发射测试

目的 探索遗传性进行性无综合征耳聋患者的听功能改变特点。方法 一个常染色体显性遗传进行性无综合征耳聋家系５２名成员及听力正常组１５名,进行了纯音测试及畸变产行耳中发射（ｄｉｓｔｏｒｔｉｏｎ ｐｒｏｄｕｃｔ ｏｔｏａｃｏｕｓｔｉｃ ｅｍｉｓｓｉｏｎｓ,ＤＰＯＡＥ）测试。结果 无综合征耳有系中３４名成员纯音测试为感音神经性夺聋,其中纯音听阀均值（ｐｕｒｅ ｔｏｎｅ ａｖｅｒａｇｅ,ＰＴ）≥４０ｄＢ的５     

心钠素免疫反应物质在豚鼠耳蜗Corti器中的分布

目的 为了解豚鼠耳蜗Ｃｏｒｔｉ器组织中心钠素免疫反应（Ａｔｉａｌ ｎａｔｒｉｕｒｅｔｉｃ ｐｅｐｔｉｄｅｓ ｉｍｍｕｎｏｒｅａｃｔｉｏｎ，ＡＮＰ－ＩＲ）物质的分布及形态学特征。方法 对耳蜗切片组织采用免疫组织化学ＡＢＣ法进行研究。结果 Ｃｏｒｔｉ器中内侧第一、二排外毛细胞，Ｂｏｅｔｔｃｈｅｒ细胞和靠近螺旋韧带嵴的基底膜ＡＮＰ－ＩＲ为阴性，其余的组织细胞均为阳性反应。结论 ＡＮＰ在Ｃｏｒｔｉ器功能方     

氨基糖甙抗生素致聋—家系

氨基糖甙抗生素致聋—家系高建中，石沙沙，刘治国氨基糖甙类抗生素致聋（ａｍｉｎｏｌｙｃｏｓｉｄｅａｎｔｉｂｉｏｔｉｃｉｎｄｕｃｅｄｄｅａｆｎｅｓｓ，ＡＡＩＤ）的个体差异和家族聚集现象已有不少报道。有人认为ＡＡＩＤ是常染色体显性遗传；也有人提出属母系遗传...     

X－连锁遗传性耳聋

X－连锁遗传性耳聋是指与耳聋表型相关的致病基因位于 X 染色体上，这些基因的遗传方式可以是显性的，也可以是隐性的，此类耳聋表型与性别相关。1930年 Dow 和 Poyner 首次报道了典型的 X－连锁遗传性耳聋，随后发现与常染色体遗传性耳聋相同，X－连锁遗传性耳聋也包括非综合征型耳聋及综合征型耳聋。对于非综合征型 X－连锁遗传性耳聋，听力损失是其唯一临床表现，根据显性及隐性遗传方式的不同，患者的发病年龄、听力损失程度等表型亦各异。综合征型 X－连锁遗传性耳聋，除了耳聋表型外同时伴有其他器官系统功能异常，比如Alport 综合征、Norrie 综合征和伴外淋巴井喷的进行性混合性聋都是 X－连锁遗传病。X－连锁遗传性耳聋较常染色体遗传性耳聋相对罕见，在遗传性耳聋中的发病比例在1％左右，但在临床遗传咨询中，通过家系图谱分析、患者的表型特征及基因检测明确 X－连锁遗传，尤其是要明确家系中女性患者和女性携带者，这对减少家庭中后代耳聋的发生意义重大。     

扁桃体摘除术及腺样体摘除术对小儿行为的影响

阻塞性睡眠呼吸暂停综合征（ｏｂｓｔｒｕｃｔｉｖｅ ｓｌｅｅｐ ａｐ－ｎｅａ ｓｙｎｄｒｏｍｅ，ＯＳＡＳ）行为障碍如学业不佳、注意力不集中、好动、好斗及反逆行为已有报道，但借用规范化的行为评估法的报道却非常少，本文就是利用标准表格－儿童行为参数表（ｔｈｅ ｃｈｉｌｄ ｂｅｈａｖｉｏｒ ｃｈｅｃｋｌｉｓｔ，ＣＢ－ＣＬ）以检测扁挑体摘除及腺样体刮除（ｔｏｎｓｉｌｌｅｃｔｏｍｙａｎｄ ａｄｎｏｉｄｅｃｔｏｍｙ，Ｔ＆Ｓ）对ＯＳＡＳ或上呼吸道阻塞患儿行为及情绪的影响。对３６例２～１８岁患儿及双亲以填写标准问卷表的…     

耳蜗前庭综合征膜迷路积水的耳蜗电图调查

１９４５年Ｃｏｇａｎ描述非梅毒性间质性角膜炎伴梅尼埃样复合症状的综合征，称为典型的Ｃｏｇａｎ综合征（ｔｙｐｉｃａｌｃｏｇａｎ ｓｙｎｄｒｏｍｅ），而由其他炎性病变代替间质性角膜炎而发病者称非典型 Ｃｏｇａｎ综合征（ａｔｙｐｉｃａｌｃｏｇａｎ ｓｙｎｄｒｏｍｅ）。后者常伴多系统受累。本文报告典型及非典型Ｃｏｇａｎ综合征的前庭听功能与耳蜗电图所见。前者２６岁男性，ＥＮＧ右自发性眼晨８°／秒（闭眼）；右耳向下时眼震向右，速度同前；坐位时速度增为１０°／秒。Ｈａｌｌｐｉｋｅ冷热试验右耳前庭反应低３５％、冷…     

常染色体隐性遗传非综合征性耳聋基因研究进展

耳聋是威胁人类健康的最常见的疾病之一，在新生儿中发病率约为1／1000，约60％的耳聋患者有遗传背景。按表型特点不同分为综合征性耳聋（SHI）和非综合征性耳聋（NSHI）。根据遗传方式不同将遗传性耳聋分为常染色体显性遗传（AD）、常染色体隐性遗传（AR）、X连锁遗传、Y连锁遗传及线粒体遗传五类，其中以常染色体隐性遗传性耳聋最多见，约占75％-80％。至今确定的与常染色体隐性遗传非综合征性耳聋有关的基因座位有60个（基因座位以DFNB命名），已经克隆的基因有20个。以下仅就已知基因的相关表型、结构功能及在人类的贡献等研究情况做一综述。     

Treacher Collins综合征病例报告及文献复习

目的：结合临床病例,复习并探讨Treacher Colllins综合征（TCS）的遗传学背景、临床特征、诊断、治疗和产前检查与咨询。方法：分析一母子TCS患者的临床资料,并复习有关文献。结果：TCS患者临床表现多样,主要临床特征为眼裂下斜、小颌、小耳畸形和其他耳部畸形等。建议该患儿先试配骨导式助听器,行人工耳蜗植入术。结论：TCS是一种常染色体显性遗传性疾病,基因定位于5q32-q33．1（TCOF1基因,Treacher Collins—Franceschetti Syndromegene）,因TCOF1基因突变而致病。TCS诊断要结合临床评估、影像学检查和分子遗传学检查。治疗上需多个学科医师共同协作完成,手术时机和方法的选择十分重要,并遵循个体化原则。对于有遗传危险的妊娠,需行产前检查和咨询。     

Congenital tracheal cartilaginous sleeve

The congenital tracheal cartilaginous sleeve (TCS) results from a vertical fusion of the tracheal cartilages. This rare malformation is usually associated with one of the craniosynostosis syndromes, such as Crouzon's disease, Pfeiffer's syndrome, or Goldenhar's syndrome. Three new cases of TCS are reported, two with autopsy findings including the histopathology of horizontal tracheal sections. Salient features of the clinical presentation, diagnostic evaluation, endoscopic findings, histopathology, treatment, and prognosis for TCS are summarized from the perspective of the otolaryngologist. In addition, the literature is reviewed, and previously reported cases are discussed. Although infants with TCS often have multiple abnormalities, this tracheal malformation is not incompatible with life. Since multiple lesions of the larynx and trachea may be present, endoscopic evaluation is recommended for infants with TCS who experience airway distress. A smooth trachea lacking the normal ridges of tracheal arches suggests the diagnosis of TCS. With early recognition and appropriate management (including tracheotomy, if necessary, and aggressive management of pulmonary hygiene), patients may survive into childhood.     

鼻咽癌的高家族聚集现象与遗传

目的通过鼻咽癌高家族聚集现象来探讨鼻咽癌与遗传的关系。方法调查分析家系图，二个家系皆为五代人，共171人，其中患鼻咽癌有17人。结果鼻咽癌是遗传因素与环境因素共同作用的多基因遗传病。结论鼻咽癌可能与遗传因素有关。     

Treacher Collins Syndrome: The genetics of a craniofacial disease

Objectives

The molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse. This article codifies the most recent findings in this complex area of research to further current understanding of the disease process. Elucidating the genetic causes of the disorder can be useful in earlier detection and better treatment planning.

Design

Articles from 1991 to 2013 were selected and reviewed by five researchers utilizing the most recent literature of the genetics and pathophysiology of TCS.

Results

Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS. The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis. However, recent data illustrating that P53 heterozygosity is protective against TCS, and that P53 and TCOF1 hemizygous embryos do not affect ribosomal function, implicates P53 or elements downstream of P53 as playing a role in TCS pathogenesis.

Conclusion

Our study codified nascent findings of the molecular determinants of TCS. These findings add to a burgeoning database of TCS-associated mutations, and as such, can be used to establish TCS diagnosis and further clarify TCS pathogenesis.     

Factors causing deafness in deaf-mute students

An analysis of 240 deaf-mute students revealed that the main cause of congenital deafness had been heredity (68.5%) which was different from that before 1970s. Of the patients with delayed deafness, 29.8% were hereditary. Altogether, 92 cases (38.3%) had hereditary deafness, among which, 50 cases (46 families) were of autosomal recessive and 42 cases (37 families) autosomal dominant. Thirty-eight cases (41.3%) had their deafness induced by ototoxic antibiotics. A significant familial history of high susceptibility to such antibiotics was available in 26 cases (68.4%). It is suggested that the key of deaf-prevention should be eugenics and the avoidance of ototoxic antibiotic abuse.     

Tracheal cartilaginous sleeve in Crouzon syndrome

Tracheal cartilaginous sleeve (TCS) is a congenital malformation characterized by fusion of the tracheal arches that may be isolated to a few tracheal arches, include the entire trachea, or extend beyond the carina into the bronchi. TCS has been reported only in children with craniosynostosis. Seven cases of TCS and Crouzon syndrome (CS) are mentioned in the literature. In addition to our case study, a review of the literature on TCS in CS, a classification of TCS and treatment options will be provided. Tracheotomy and frequent airway endoscopy coupled with a keen understanding of the shifting sites of obstruction will permit longterm survival in patients with TCS and CS.     

ENT changes in Crouzon's syndrome

Crouzon's syndrome is a chapter of the craneosynostosis, congenital diseases characterized for the precocious closure of cranial sutures. It represents an autosomal dominant heredity. Recently has been find out that the mutation lies in the short arm of chromosome 10, which causes the alteration of type 2 receptor of growth factor of fibroblasts (FRFG2). Clinically together with the cranial deformities appear frequently malformations in ENT-sphere, but only in 3 percent of all cases has been observed otic changes. We present the case of a young girl of 16, bearing a Crouzon's syndrome, coming to our office because of bilateral hypacusis. Clinical examination and complementary tests showed bilateral atresia of both auditive meatus lack of mastoid pneumatization, anomalous facial route and heavy bilateral transmissive hearing impairment, together with septum nasi deflection and hypoplasy of paranasal sinuses.     

Tracheal cartilaginous sleeve in craniosynostosis

Tracheal cartilaginous sleeve (TCS) is a congenital malformation involving fusion of the tracheal arches that may be isolated to a few tracheal arches, include the entire trachea, or extend beyond the carina into the bronchi. Tracheotomy was required in 9 of 23 craniosynostosis cases undergoing gradual distraction at Osaka City General Hospital from March 2002 to April 2006. TCS was diagnosed in 5 of 9 cases-four Pfeiffer patients and one Crouzon patient. Diagnosis was made intraoperatively during tracheotomy or at autopsy. 3D-CT was not useful in diagnosing TCS. Aggressive management of respiratory infection and pulmonary secretion, selection of appropriate tracheostomy tubes, and endoscopic evaluation are very important to care in managing TCS patients.     

Obstructive sleep apnea in Treacher Collins syndrome

The aim of the present study was to investigate the prevalence of obstructive sleep apnea syndrome (OSAS) among the Norwegian population with Treacher Collins syndrome (TCS). A secondary aim was to establish whether TCS phenotype severity is associated with OSAS severity. A prospective case study design was used. Individuals who were 5 years old and above with a known diagnosis of TCS in Norway were invited to participate in a study. The study included genetic testing, medical and dental examinations and polysomnography. All participants demonstrated disturbed respiration during sleep; 18/19 met the diagnostic criteria for OSAS. Subjectively evaluated snoring was not a reliable predictor of OSAS. We found no significant association between TCS phenotype severity and the severity of OSAS. OSAS is common in TCS, but there is no association with the phenotype severity. Individuals diagnosed with TCS must undergo sleep studies to identify the presence of OSAS.     

Management of xeroderma pigmentosum

Xeroderma pigmentosum is an autosomal recessive disease associated with a defect in DNA repair from damage by ultraviolet light. It is characterized by the development of cutaneous malignancies in childhood and by death from the local or systemic complications thereof by the third decade of life. The head and the neck are the most frequently affected areas. Management involves sunlight avoidance and prompt biopsy of any new skin lesion. Due to the chronic nature of the disease, it is necessary to excise the least amount of tissue consistent with tumor removal in order to preserve skin for future procedures. In some patients, radiation therapy and/or certain chemotherapeutic agents are abnormally cytotoxic and must be utilized with caution.