【广东会GDH基因检测】泰西尔14号面部裂基因检测

基因检测机构介绍：

基因检测单位名称：河南省鹤壁市基因检测推荐机构。其他成熟基因检测项目：循环总IgM降低基因检测靶向治疗, 线粒体呼吸链活性异常

基因检测导读：

泰西尔14号面部裂致病基因分析: 来自重庆市市辖区长寿区长寿湖镇的乔亦秀（化名）在西安万杰华祥医院被医生诊断为泰西尔14号面部裂。总结《Ear and Hearing》，泰西尔14号面部裂的出现有多种原因，也有多种类型和表现情况，防止恶化和更有效的治疗需要查明原因。在基因解码基础上，结合医学大数据分析，由基因突变引起的可以在基因检测结构得出清晰的结论，即可以准确的诊断和治疗，又可以避免疾病的遗传。

本文关键词

泰西尔14号,面部裂,基因检测

人体疾病表征数据库查询

产生泰西尔14号面部裂医师会怀疑以下疾病类型：

怎样才能诊断准确？

HP:0031586

表型描述

This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.

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