Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association
Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association
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双侧胫骨半肢畸形 1 型（1a 和 1b）与 T9 和 T10 半椎骨：一种新的关联
DOI：
10.1590/1516-3180.2013.1314494
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
G. Pérez
中科院分区：
文献类型：
--
作者：
V. M. Salinas;L. O. Barajas;Nicolás Pérez;G. Pérez
摘要背景：先天性胫骨缺失是一种罕见的异常，发病率为每 1,000,000 名活产婴儿中就有一名。它大多是散发性的，可以被识别为一种孤立的疾病或畸形综合征的一部分。病例报告：一名男孩，由未患病且非近亲结婚的父母所生，表现为腿缩短和双足内收。六个月大时体检显示头围44.5厘米（第75个百分位），身长60厘米（<第3个百分位），体重7,700克（第50个百分位），左大腿缩短，双腿内翻。没有颅面畸形或胸部、腹部、生殖器或上肢异常。精神运动发育正常。他的检查，包括肾脏和颅骨超声检查、脑干听觉诱发电位以及眼科和心脏病检查，均正常。 X 射线显示双侧胫骨缺失，腓骨完整，左股骨远端发育不良，右股骨正常。此外，脊柱X光片显示T9和T10处有半椎骨。结论：这种新颖的关联扩大了胫骨半肢畸形的范围。此外，这一观察结果强调了这种廉价的诊断方法（X 射线）对于表征胫骨半肢畸形的巨大临床和放射学变异性的有用性。
ABSTRACT CONTEXT: Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT: A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (< 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION: This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia.