Abstract
Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome.
 Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477
Highlights
Apert syndrome is a rare type I acrocephalosyndactyly syndrome which was first described by Eugene Apert, a French physician, in 1906.1 It is characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.[1,2]
Hands appear spoon-shaped, characterized by fusion of all the fingers. In both feet all toes fused giving it a club-like feature. During admission his temperature was 1020 F, respiratory rate was 62 breaths per minute.Vesicular breath sound with bilateral rhonchi with crepitation was detected on auscultation.With all above findings we provisionally diagnosed the patient as a case of Apert syndrome with pneumonia
Apert syndrome usually diagnose at birth by the characteristic physical appearance of the baby
Summary
Apert syndrome is a rare type I acrocephalosyndactyly syndrome which was first described by Eugene Apert, a French physician, in 1906.1 It is characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.[1,2] The incidence of Apert syndrome is approximately 1 in 50,000 to 80,000 live births.[3]Diagnosis of this syndrome can be done at birth by assessing the physical appearance of the baby. Of Paediatrics Ad-din Women’s Medical College Dhaka Of Paediatrics Ad-din Women’s Medical College Dhaka e-mail: mahmudahasn@yahoo.com
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