Carpenter syndrome.

Full 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.

Author information

Author/s: Hidestrand, Pip (P); Vasconez, Henry (H); Cottrill, Carol (C);

Affiliation: Department of Pediatrics, University of Kentucky, Lexington, KY 40503, USA. pip.huang(-atsign-)uky.edu

Journal and publication information

Publication Type: Case Reports; Journal Article

Journal: The Journal of craniofacial surgery (J Craniofac Surg), published in United States. (Language: eng)

Reference: 2009-Jan; vol 20 (issue 1) : pp 254-6

Dates: Created 2009/01/23; Completed 2009/05/07;

PMID: 19165041, status: MEDLINE (last retrieved date: 5/7/2009)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Acrocephalosyndactylia - genetics; surgery
Adult
Aortic Valve - abnormalities
Aortic Valve Stenosis - pathology
Blindness - pathology
Female
Follow-Up Studies

Follow-Up Studies
Heart Septal Defects, Ventricular - pathology
Humans
Kyphosis - pathology
Optic Atrophy - pathology
Orbit - abnormalities
Syndrome

Note: Bold headings indicate primary MeSH headings or qualifiers.

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