【佳學(xué)基因檢測】泰西爾14號面部裂基因檢測

基因檢測機(jī)構(gòu)介紹：

基因檢測單位名稱：河南省鶴壁市基因檢測推薦機(jī)構(gòu)。其他成熟基因檢測項(xiàng)目：循環(huán)總IgM降低基因檢測靶向治療, 線粒體呼吸鏈活性異常

基因檢測導(dǎo)讀：

泰西爾14號面部裂致病基因分析: 來自重慶市市轄區(qū)長壽區(qū)長壽湖鎮(zhèn)的喬亦秀（化名）在西安萬杰華祥醫(yī)院被醫(yī)生診斷為泰西爾14號面部裂。總結(jié)《Ear and Hearing》，泰西爾14號面部裂的出現(xiàn)有多種原因，也有多種類型和表現(xiàn)情況，防止惡化和更有效的治療需要查明原因。在基因解碼基礎(chǔ)上，結(jié)合醫(yī)學(xué)大數(shù)據(jù)分析，由基因突變引起的可以在基因檢測結(jié)構(gòu)得出清晰的結(jié)論，即可以正確的診斷和治療，又可以避免疾病的遺傳。

本文關(guān)鍵詞

泰西爾14號,面部裂,基因檢測

人體疾病表征數(shù)據(jù)庫查詢

產(chǎn)生泰西爾14號面部裂醫(yī)師會懷疑以下疾病類型：

怎樣才能診斷正確？

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.