title: Apert Syndrome: Late presentation and treatment challenges.
abstract: Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of the hands and feet. Anomalies of the viscera, skeleton and cardiovascular system have also been reported… Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Most cases are sporadic, resulting from new mutations with a paternal age effect. The prognosis of Apert Syndrome depends on the severity of brain malformation and early surgical interventions. We describe a Sudanese infant with Apert syndrome who presented for the first time at the age of three months and had limited options for intervention.
authors: (1) Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Sudan.
authors: Abdelmoneim E M
authors: AE
authors: Kheir
authors: (2) Department of Pediatrics, Soba University Hospital, Khartoum, Sudan.
authors: Ahlam A
authors: AA
authors: Hamed
authors: (3) The Neonatal Unit, Soba University Hospital, Khartoum, Sudan.
authors: Wala M
authors: WM
authors: Maki
authors: (3) The Neonatal Unit, Soba University Hospital, Khartoum, Sudan.
authors: Lina H M
authors: LH
authors: Hasan
keywords: Apert Syndrome; Craniosynostosis; Infant; Sudan; Syndactyly