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Abstract：
Meromelia refers to the partial absence of at least 1 limb and is also referred to as \"terminal transverse hemimelia.\" It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition.
摘要：
Meromelia是指至少一个肢体的部分缺失，也称为“末端横向半球症”。“它可以孤立地发生，也可以与其他先天性畸形一起发生。文献中很少有出版物报道伴有其他先天性异常的meromelia病例。近端局灶性股骨缺陷是另一种罕见的先天性骨骼异常，其特征是股骨近端发育不足和整个下肢缩短。先前已报道一例新生儿上肢小脑伴近端局灶性股骨缺损和腓骨偏侧。然而,根据我们的知识，迄今为止，从未报道过上肢磨牙与跖骨间联合的关联。这里,我们介绍了一名成年患者，表现出多种罕见的先天性骨骼异常的异常关联，包括子粒，近端局灶性股骨缺陷，腓骨半膜,和椎间联盟。
