Sudden death in a child with Carpenter Syndrome. Case report and literature review

Abstract

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.

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

“…Mental impairment is a common, but not a consistent finding and when present can range from mild to profound disability [Frías et al, 1978;Işlek et al, 1998;Ramos et al, 2009]. Our patient exhibits many of the typical features of the disorder including craniosynostosis with acrocephaly, brachydactyly of the hands, polysyndactyly of the feet, umbilical hernia, and macrosomia but she is unique in that she presented with several anomalies not reported in this condition including a large ovarian cyst and heterotaxy.…”

“…Carpenter syndrome, or acrocephalopolysyndactyly type II, has been described over 70 times in the literature and is characterized by a wide range of findings including varying degrees of craniosynostosis, congenital heart defects, umbilical hernia, brachydactyly and syndactyly of the hands and feet, polysyndactyly of the great toes, macrosomia, bone abnormalities such as absent middle phalanges and coxa valga, short stature, and obesity [Cohen, 2009;Ramos , 2009]. Mental impairment is a common, but not a consistent finding and when present can range from mild to profound disability [Frías et al, 1978;Işlek et al, 1998;Ramos et al, 2009].…”

“…Carpenter syndrome comprises varying degrees of craniosynostosis, congenital heart defects, brachydactyly and syndactyly of hands and feet, polysyndactyly of the great toes, macrosomia, bone abnormalities such as absent middle phalanges and coxa valga, short stature, and obesity [Cohen, 2009;Ramos et al, 2009]. It is generally caused by biallelic mutations in the ras-like in rat brain 23 (RAB23) gene but some cases have resulted from mutations in the multiple epidermal-growth-factor-like-domains 8 (MEGF8) gene [Jenkins et al, 2007[Jenkins et al, , 2011Cohen, 2009;Twigg et al, 2012].…”

Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update

“…Carpenter syndrome may feature congenital heart disease, such as ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, Fallot tetralogy and laterality defects, likely related to a particular mutation identified in the multiple epidermal growth factor-like domains 8. Cardiac complications are associated with rare cases of sudden death, but data are insufficient to speculate on any possible mechanisms (45).…”