Carpenter syndrome: a case report

• Published in: Mymensingh medical journal : MMJ Vol. 21; no. 3; p. 547
• Main Authors: Begum, S, Khatun, N, Rayhan, S M, Rahman, S A
• Format: Journal Article
• Language: English
• Published: Bangladesh 01-07-2012
• Subjects: Acrocephalosyndactylia - genetics; Acrocephalosyndactylia - pathology; Female; Humans; Infant
• ISSN: 1022-4742

Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia. Carpenter syndrome is autosomal recessive disorder and prenatal diagnosis of this syndrome is possible by ultrasonogram during pregnancy. We reported a case of carpenter syndrome of 2.5 months old female infant of consanguineous parents who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) on 30th March 2010. She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports.