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胼胝体部分发育不全病例中的口腔颌面部表现——罕见现象

Orodental manifestations in cases with partial agenesis of corpus callosum-rare phenomena.

作者信息

Bhambal Annette M, Bhambal Ajay, Nair Preeti, Bhambal Sheela S

机构信息

Assistant Professor, People's College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India.

Professor, Department of Preventive and Public Health Dentistry, People's College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India.

出版信息

J Oral Biol Craniofac Res. 2015 May-Aug;5(2):106-11. doi: 10.1016/j.jobcr.2015.04.003. Epub 2015 Jun 6.

Abstract

UNLABELLED

This article focuses on the associated signs and symptoms of patients with partial agenesis of the corpus callosum. The orodental manifestations of such cases have been given special weightage which will prove to be of great help to oral physician when encountered with such cases.

CASE DETAILS

Two siblings, aged 14 and 16 years, reported with a chief complaint of severe crowding of teeth with mouth breathing habit. They were low birth-weight babies and had been born to non-consanguinous parents. The distinguishing features of these children were craniofacial abnormalities, delayed developmental milestones, mild mental retardation and abnormal gait. The nosological features and the clinical manifestations of this syndrome and the plausible autosomal recessive inheritance of this rare syndrome have been elicited. The diagnosis was based on characteristic phenotype, in particular striking craniofacial and skeletal abnormalities and neuroimaging.

CONCLUSION

It is a challenge for healthcare professionals to help these youths to maximize their potential as human beings and help them achieve a meaningful adulthood. On the other hand, diagnosing such cases can be a challenge to dentistry. A systematic protocol, if adhered, can lead to a more appropriate diagnosis. Managing such cases in a clinical setup involves a multispeciality and interdisciplinary approach.

摘要

未标注

本文重点关注胼胝体部分发育不全患者的相关体征和症状。此类病例的口腔牙齿表现受到特别重视,这将对口腔医生遇到此类病例时提供很大帮助。

病例详情

两名分别为14岁和16岁的兄弟姐妹,主诉严重牙列拥挤伴口呼吸习惯。他们出生时体重低,父母非近亲结婚。这些孩子的显著特征是颅面异常、发育里程碑延迟、轻度智力障碍和步态异常。已得出该综合征的疾病特征、临床表现以及这种罕见综合征可能的常染色体隐性遗传方式。诊断基于特征性表型,特别是显著的颅面和骨骼异常以及神经影像学检查。

结论

对于医疗保健专业人员来说,帮助这些年轻人充分发挥其作为人的潜力并帮助他们实现有意义的成年生活是一项挑战。另一方面,诊断此类病例对牙科来说可能是一项挑战。如果遵循系统的方案,可以实现更恰当的诊断。在临床环境中处理此类病例需要多专业和跨学科的方法。

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Shapiro syndrome.夏皮罗综合征
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The Greig cephalopolysyndactyly syndrome.格雷格头多指(趾)综合征
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