2016Pediatric Review International Journal of Pediatric ResearchOpen access

Apert’s Syndrome: rare variant of a common anomaly (Craniosynostosis)

Dr Zalak Shah, Dr Dhanya Soodhana

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Abstract

Apert’s syndrome (Acrocephalosyndactyly) is a rare congenital condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. We present here a case of neonate with Apert’s syndrome. The typical features as described makes it easy to diagnose Apert’s syndrome. Radiology plays an important role in the evaluation and management of these patients. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. Because of the multiple alterations in patients with Apert’s syndrome, a multidisciplinary approach is essential for a successful planning and treatment.

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Apert’s syndrome (Acrocephalosyndactyly) is a rare congenital condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. We present here a case of neonate with Apert’s syndrome. The typical features as described makes it easy to diagnose Apert’s syndrome. Radiology plays an important role in the evaluation and management of these patients. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. Because of the multiple alterations in patients with Apert’s syndrome, a multidisciplinary approach is essential for a successful planning and treatment.

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Available abstract

Apert’s syndrome (Acrocephalosyndactyly) is a rare congenital condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. We present here a case of neonate with Apert’s syndrome. The typical features as described makes it easy to diagnose Apert’s syndrome. Radiology plays an important role in the evaluation and management of these patients. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. Because of the multiple alterations in patients with Apert’s syndrome, a multidisciplinary approach is essential for a successful planning and treatment.

Key concepts: Apert syndrome, Craniosynostosis, Syndactyly, Medicine, Dysostosis, Craniosynostoses, Pediatrics, Surgery

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