Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.
Department of Medicine, Jinnah Postgraduate Medical Centre, Karachi, Pakistan.
J Pak Med Assoc. 2022 May;72(5):975-977. doi: 10.47391/JPMA.3793.
Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare, genetic, congenital limb malformation characterised by unilateral or bilateral fibular aplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. A newborn male born at term via a Caesarean Section presented with malformations consisting of tibial campomelia, unilateral fibular hypoplasia, and oligosyndactyly, a "FATCO variant" case. On radiographic examination, an anterolateral shortened and bowed right lower limb at the distal third of the tibia, a rudimentary right fibula and absence of three rays on right foot were revealed. "FATCO syndrome" although rare may be linked to involvement of different body systems with morbidity and mortality. Proper parent counseling is a key aspect of this syndrome. Timely diagnosis and management with a multidisciplinary approach is essential to avoid lifelong disability, which can be a hurdle in a developing country.
纤维发育不良、胫骨短缩和并指(FATCO 综合征)是一种罕见的、遗传的先天性肢体畸形,其特征为单侧或双侧腓骨发育不良、胫骨短缩和下肢并指,涉及外侧指。一名足月经剖宫产出生的男性新生儿存在多种畸形,包括胫骨短缩、单侧腓骨发育不良和并指,属于“FATCO 变异”病例。影像学检查显示,右下肢胫骨远端三分之一处出现前外侧缩短和弯曲,右腓骨发育不全,右脚有 3 个指骨缺失。“FATCO 综合征”虽然罕见,但可能与不同身体系统的受累有关,存在发病率和死亡率。对父母进行适当的咨询是该综合征的一个关键方面。通过多学科方法进行及时诊断和管理对于避免终身残疾至关重要,而残疾在发展中国家可能是一个障碍。