Sharma Vijai, Yadav Ganesh, Gupta Anil Kumar, Kumar Dileep
Department of Physical Medicine and Rehabilitation, King George Medical University, Lucknow, UP, India.
J Pediatr Rehabil Med. 2014;7(4):373-7. doi: 10.3233/PRM-140304.
Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability.
A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised.
We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.
胫骨半侧发育不全/发育不全是一种罕见的先天性异常，其特征是胫骨缺失而腓骨相对完整。它们可被识别为一种孤立的疾病或作为畸形综合征的一部分。本病例扩展了胫骨半侧发育不全的范围，其具有极大的临床和放射学变异性。
一名5岁女童，其父母非近亲结婚且无异常，出现双腿畸形和缩短。除双下肢外无其他结构异常。放射学影像显示右侧胫骨缺失、腓骨成角和跗骨联合。双下肢股骨均正常，而左侧髌骨、胫骨和距骨缺失，同时伴有第一跖骨缺如。双足均有严重内翻畸形。患儿父母不愿接受矫正手术，因此设计了延长假体。
我们报告了一例胫骨半侧发育不全病例，并提出了此类患者的管理和康复方法。需要建立一个先天性畸形监测和记录系统，以确定所有类型肢体缺陷的人口统计学参数、病因、危险因素和关联。需要一个包括更广泛肢体畸形范围的分类系统。
