Sudden death in a child with Carpenter Syndrome. Case report and literature review.
Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia. We present a case of unexpected death of a 7-year-old boy with Carpenter Syndrome complicated by twin and premature birth as well as repaired congenital heart disease.
Ramos
Jeanette M
JM
Department of Pathology and Laboratory Medicine, University of Kentucky College of Medicine, Lexington, 40536-0298, USA. jeanette.ramos@uky.edu
Davis
Gregory J
GJ
Hunsaker
John C
JC
Balko
M Gregory
MG
D000168:Acrocephalosyndactylia / Q000150:complications* / Q000473:pathology*; D002648:Child; D003645:Death, Sudden / Q000209:etiology* / Q000473:pathology*; D017809:Fatal Outcome; D049429:Forensic Pathology; D006330:Heart Defects, Congenital / Q000150:complications / Q000473:pathology; D006801:Humans; D008297:Male