目的本报道介绍了1例FBN1基因杂合突变所导致的Geleophysic发育不良2型(Geleophysic dysplasia type 2),旨在探讨GD的临床特征,以期为该疾病患儿的早发现、及早诊断并尽早地治疗提供参考。方法总结并分析了患儿的临床特征、影像学等相...目的本报道介绍了1例FBN1基因杂合突变所导致的Geleophysic发育不良2型(Geleophysic dysplasia type 2),旨在探讨GD的临床特征,以期为该疾病患儿的早发现、及早诊断并尽早地治疗提供参考。方法总结并分析了患儿的临床特征、影像学等相关检查及基因检测等。结果12岁维吾尔族男患,因身材矮小复诊,其主要特征为身材矮小、四肢短小、具有特殊面容、肝脏进行性肿大和骨骼发育不全。基因检测结果提示FBN1杂合突变。结论本个案报道了1例FBN1基因杂合突变所致的GD2维吾尔族患儿,丰富了相关疾病的基因库,诊断该病后需要多学科多方面密切监测并随访患儿的病情及转归。展开更多
BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness ...BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.展开更多
文摘目的本报道介绍了1例FBN1基因杂合突变所导致的Geleophysic发育不良2型(Geleophysic dysplasia type 2),旨在探讨GD的临床特征,以期为该疾病患儿的早发现、及早诊断并尽早地治疗提供参考。方法总结并分析了患儿的临床特征、影像学等相关检查及基因检测等。结果12岁维吾尔族男患,因身材矮小复诊,其主要特征为身材矮小、四肢短小、具有特殊面容、肝脏进行性肿大和骨骼发育不全。基因检测结果提示FBN1杂合突变。结论本个案报道了1例FBN1基因杂合突变所致的GD2维吾尔族患儿,丰富了相关疾病的基因库,诊断该病后需要多学科多方面密切监测并随访患儿的病情及转归。
文摘BACKGROUND Geleophysic dysplasia(GD)presents the characterized clinical manifestations of acromelic dysplasia,including extremely short stature,short limbs,small hands and feet,stubby fingers and toes,joint stiffness and others.It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities,progressive hepatomegaly and tracheal stenosis.CASE SUMMARY We report on a Chinese 9-year-old girl with GD with the c.5243G>T(p.C1748F)mutation in FBN1(fibrillin 1,OMIM 134797).She was born in Guangxi Zhuang Autonomous Region of China.The patient presented with typical clinical features of GD and recurrent respiratory tract infections over 6 years.Laboratory studies and chest computed tomography(CT)scan indicated bronchopneumonia.Her echocardiography revealed mild mitral valve thickening with regurgitation.Laryngopharyngeal CT and electronic bronchoscopy revealed severe glottic stenosis.Echocardiography examination displayed mild mitral valve thickening and regurgitation.Ophthalmic examination did not reveal myopia or lens dislocation.Treated with ceftriaxone sodium and methylprednisolone sodium succinate for injection as well as methylprednisolone orally,patient’s symptoms had improved.CONCLUSION GD is a rare genetic condition that can cause life-threatening cardiovascular and respiratory problems.This study also found that the identified genotype of GD could be related to different clinical phenotypes.
