BACKGROUND Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1.1-2.0 in 100,000 live births. It is a dysplastic phenomenon with predilections for the proximal two-thirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare entity. CASE PRESENTATIONS Case 1 A 4.5-month-old baby Annang tribe girl was referred in April 2019 to our Radiology Department, University of Uyo Teaching Hospital, Nigeria for lower limb radiographs. This was on account of her shortened left lower limb from birth despite uneventful antenatal history. An examination revealed bulky left thigh with abduction of her left hip joint. Radiographic evaluations showed absent left femoral capital epiphysis, with deficient proximal left femur. A diagnosis of proximal femoral focal deficiency was made. Sadly, the parents and baby failed to honor future orthopedic consultations on intimation of sequential management protocols. Case 2 A 4-month-old baby Ibibio tribe girl was similarly referred in August 2019 to the same Radiology Department for lower limb conventional radiographs due to short left lower limb that was noticed from birth. An examination showed shortened left lower limb in external rotation. Her right and left lower limbs measured 27 cm and 23 cm, respectively, with landmark taken from anterior superior iliac spine to tip of medial malleolus. A diagnosis of proximal femoral focal deficiency was made. Corroborating radiographs showed shortened and hypoplastic left femoral shaft but preserved femoral capital epiphysis. Coincidentally, the parents have not brought back their baby to our orthopedic clinic. CONCLUSIONS The discovery of two cases of proximal femoral focal deficiency, a rare entity, from referrals for conventional radiography in our Radiology Department encourages literature documentation. Such recognition will facilitate early institution of management, thus ensuring meaningful childhood growth.

中文翻译：

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股骨近端局灶性缺陷 - 一种罕见的先天性实体：两例病例报告和文献综述。

背景技术股骨近端局灶性缺陷是一种极其罕见的先天性异常，每 100,000 名活产儿中的发病率为 1.1-2.0。这是一种发育不良现象，好发于股骨近三分之二，导致肢体长度差异。我们报告了两例股骨近端局灶性缺陷，这是一种罕见的疾病。病例介绍 病例 1 一名 4.5 个月大的安南部落女婴于 2019 年 4 月被转诊至尼日利亚乌约大学教学医院放射科进行下肢 X 光检查。这是因为尽管她的产前史平安无事，但她的左下肢从出生起就缩短了。检查显示，她的左大腿粗大，左髋关节外展。放射学评估显示左股骨头骨骺缺失，左股骨近端有缺陷。诊断为股骨近端局灶性缺损。可悲的是，父母和婴儿未能遵守未来关于顺序管理方案暗示的骨科咨询。病例2 一名4个月大的伊比比奥部落女孩因出生时发现左下肢短，于2019年8月同样被转诊至同一放射科进行下肢常规X光检查。检查显示左下肢外旋缩短。右下肢长27厘米，左下肢长23厘米，以髂前上棘至内踝尖为界标。诊断为股骨近端局灶性缺损。证实的X光片显示左股骨干缩短且发育不全，但股骨头骨骺保留。巧合的是，父母还没有把孩子带回我们骨科诊所。结论 在我们放射科转诊进行常规放射线摄影时发现两例股骨近端局灶性缺陷（一种罕见的疾病），这鼓励文献记录。这种认可将促进早期管理制度的建立，从而确保有意义的儿童成长。