Background: Apert syndrome (acrocephalosyndactyly type 1) is a rare syndrome, well known by severe syndactyly, dysmorphic face and craniosynostosis and is caused by FGF (fibroblast growth factor) receptor-2 gene mutations. Case Report: This is a case report of one year old girl child who presented with syndactyly of bilateral hands and feet, delayed milestones and dysmorphic facial features. Radiograph of the hands and feet of the patient revealed bilateral soft tissue and bony syndactyly, single broadened dysplastic phalanx in both great toes and presence of only two phalanges in 2 nd to 5 th toes. Non-contrast computed tomography of the head revealed bi-coronal synostosis and a widely open midline calvarial defect extending from posterior fontanelle to the root of the nose with hypoplastic bilateral maxillae. Intra-parenchymal findings including ventriculomegaly, corpus callosum thinning, absent cavum septum pellucidum and enlarged cystic space in posterior fossa were also present. Conclusion: Recognition of characteristic clinical and imaging abnormalities are crucial to radiologists and clinicians in the diagnosis and management of these patients. Since there is multi-system involvement, a multidisciplinary approach is needed in the management of patients.
This is a rare case report of a 5-month-old child with a complex spinal dysraphic state, and an accessory limb (tripedus morphology), accessory genitalia, and anal dimple. The child was brought to the hospital with an accessory limb arising from the back. On clinical examination, an accessory limb arising from the lower back with a partially developed foot with the presence of toes and nails was noted. Spinal MRI was advised which revealed dysraphic features including spina bifida with the low lying and posteriorly tethered cord with diastematomyelia along with a supernumerary appendage attached to the vertebral column having rudimentary bones resembling those of extremities. The presence of an accessory limb with spinal dysraphism is quite a rare anomaly. The condition can be treated by surgical intervention and involves excision of the accessory limb with adequate dural and paraspinal muscle cover.
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