Özdemir Meltem, Kavak Rasime Pelin, Demiral Berat, Tangobay Erdi
University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Radiology, Ziraat mah. Şehit Ömer Halisdemir cad. No:20, Ankara, Turkey.
Radiol Case Rep. 2020 May 1;15(7):882-886. doi: 10.1016/j.radcr.2020.04.030. eCollection 2020 Jul.
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.
四肢短小畸形是指至少有一条肢体部分缺如，也被称为“末端横向半肢畸形”。它可以单独出现，也可伴有其他先天性畸形。文献中报道伴有其他先天性异常的四肢短小畸形病例非常少。近端局灶性股骨发育不全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全以及整个下肢缩短。此前曾报道过1例新生儿上肢四肢短小畸形伴有近端局灶性股骨发育不全和腓骨半肢畸形的病例。然而，据我们所知，上肢四肢短小畸形与跖骨间联合的关联迄今为止从未有过报道。在此，我们报告1例成年患者，其表现出多种罕见先天性骨骼异常的不寻常关联，包括四肢短小畸形、近端局灶性股骨发育不全、腓骨半肢畸形和跖骨间联合。
