Carpenter Syndrome

Abstract

Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

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

“…Two other studies mention cause of death in adult patients. One 34-year-old patient died of congestive heart failure secondary to Eisenmenger syndrome, and the other was a sudden, unexplained adult death [4,11]. The child described above died unexpectedly at home at nearly 8 years of age.…”

“…Two adult siblings, one with mild mental retardation and one with low normal intelligence, were able to successfully complete high school as well as some junior college and business school courses [4]. Another adult with severe mental retardation was dependent upon adult aid [11]. Growth was reported to be either slightly delayed or normal with persistence of obersity [11,14].…”

“…Another adult with severe mental retardation was dependent upon adult aid [11]. Growth was reported to be either slightly delayed or normal with persistence of obersity [11,14]. Due to the skull deformities, difficulty in articulation and frequent otitis media have been reported [14].…”

“…Skull shapes range from acrocephaly (pointed) to a cloverleaf configuration [13]. Most patients with this syndrome will undergo some form of craniofacial reconstruction [11].…”

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…60 Carpenter syndrome also shows syndactyly, heart defects and craniosynostosis but mental retardation is seen in nearly all cases. 61 Saethre-Clotzen syndrome is a mild form of congenital bone deformation with craniosynostosis, low set frontal hair line, parrot-beaked nose, variable facial symmetry and brachydactyly. Saethre-Clotzen syndrome does not have the syndactyly feature of Apert and the ptosis and hypertelorism are less expressed than in Crouzon syndrome.…”