发育迟缓秃发KLIPPEL-FEIL综合征秃发-精神发育迟缓综合征(alopecia-intellectual disability syndrome, APMR)是一种罕见的常染色体隐性遗传疾病,受影响的个体表现为头发,眉毛,睫毛,腋毛和阴毛缺失,以及轻度至重度精神发育迟缓[1],可伴/不伴有早发性癫痫,骨骼发育异常,生殖器发育异常和其他皮肤病学特征[...
Klippel—Feil综合症(附9例报告及文献复习)赵奥东KlippelFeil综合症又称无天性短颈。本文报告9例,结合文献讨论其X线表现及临床。临床资料本组9例,男6例,女3例。年龄17-54岁,平均年龄41岁。病程7个月至17年。临床表现:本组... 展开 DOI: CNKI:SUN:JYTZ.0.1996-02-038 被引量: 1 年份: 1996 收藏...
FOP患者的颈椎发育异常明显不同于Klippel-Feil综合征患者;Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome FOP患者的骨骼畸形与发育性关节疾病;Skeletal malformations and developmental arthro...
It is important the early detection of level of disability thatwould help in time.Discusses the clinical case of a patient who came to LUHSHospital Kaunas Clinics for suspected genetic syndrome. Patientsphenotypic changes - chest deflection, spinal hemangioma andvertebral scoliosis. As well as ...
Klippel-Feil syndromeRange of motionSegmental mobilityKlippel-Feil syndrome (KFS) is a congenital musculoskeletal condition characterized by improper segmentation of the cervical spine. This study aimed to evaluate outcomes of KFS patients who underwent cervical disc arthroplasty (CDA).#Consecutive patients...