Apert syndrome, a rare case description and complicated syndactyly surgical decision making in a resource limited setting

Abstract

Apert syndrome is a rare genetic type I acrocephalosyndactyly disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It assumes as an autosomal dominant inheritance with mutations in the fibroblast growth factor receptor gene. We report an observation in an 11-month-old female infant who is on follow-up at the orthopaedic and plastic surgical clinics at Moi Teaching and Referral Hospital (Kenya). The paraclinical examination demonstrated complicated bilateral hand syndactyly, bilateral foot simple syndactyly on dedicated hand and foot radiographs, bicoronal synostosis with exophthalmos on cranial CT scan and atrial septal defect on echocardiogram. First stage border digit (thumb) syndactyly release was done at 9 months using the modified Flatt technique with complimentary full thickness skin grafts. Initial post-operative clinic review demonstrated surgical site healing with no signs of early creep. She is currently on scheduled multidisciplinary clinic follow-ups with the second stage surgery targeting six months postoperatively.