1例家族遗传性双侧腓骨发育不全的病例报道(英文)

Hereditary bilateral fibular aplasia or hypoplasia( FAH) :a case report from a family

腓骨发育不全或不发育(FAH)是指腓骨部分或完全不发育,在下肢畸形中非常罕见。过去文献中报道过的FAH病例通常合并面部、骨骼、消化、泌尿生殖以及心肺器官的异常。FAH的确切病因尚不清楚。现报道无合并其他畸形的1例家族遗传性双侧腓骨发育不全的病例,希望能增强对该病的进一步了解。

Malformations of the lower limbs are rare and heterogeneous anomalies. Fibular aplasia or hypo- plasia （FAH） is one kind of rare malformation that is defined by a partial or complete absence of the fibular bone. Some FAH cases involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. The exact etiolo- gy of the malformation are still unknown. Here we reported a family case of bilateral fibular aplasia with no other deformities, hooin~ that it will held us to further understanding FAH.