Craniosynostosis In Carpenter Syndrome: Radiological Clues To A Rare Diagnosis In Pakistan

Abstract

ABSTRACT:
Carpenter syndrome is a rare autosomal recessive disorder with incidence of one case per one million live births. We report a case of a 2-month-old boy with Carpenter syndrome having dysmorphic facial features, cutaneous syndactyly, polydactyly and camptodactyly. The Skeletal survey revealed a peculiar tower-shaped skull and small hypoplastic maxilla. This case report serves as an educational resource and reference for the rare occurrence of Carpenter syndrome reported from Pakistan.

KEY WORDS:
Carpenter Syndrome, Craniosynostosis, Camptodactyly.