Abdalla Ebtesam M, El-Beheiry Ahmed A
Department of Medical Genetics, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt.
J Pediatr Genet. 2017 Jun;6(2):118-121. doi: 10.1055/s-0036-1597931. Epub 2017 Jan 2.
We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones. The upper limbs were clinically and radiologically normal, and the infant had neither facial dysmorphism nor other associated visceral anomalies. The presented case highlights an extremely rare limb deficiency syndrome, and together with additional case reports, it could be useful to further delineate this condition.
我们报告了一例罕见的先天性肢体缺陷病例,其兼具腓骨发育不全、胫骨弯曲和少指(趾)畸形(FATCO)以及富尔曼综合征的特征。一名女婴,其父母为非近亲结婚的埃及人,出生时即出现下肢孤立性异常,包括双下肢缩短、胫骨远端三分之一处向前弯曲以及裂足。影像学检查显示双侧腓骨完全缺如、胫骨前外侧弯曲和缩短、股骨弯曲以及多块跖骨和趾骨缺如。上肢在临床和影像学上均正常,且该婴儿既无面部畸形,也无其他相关内脏异常。本病例突出了一种极为罕见的肢体缺陷综合征,与其他病例报告一起,可能有助于进一步明确这种疾病。