Carpenter syndrome.
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.
Hidestrand
Pip
P
Department of Pediatrics, University of Kentucky, Lexington, KY 40503, USA. pip.huang@uky.edu
Vasconez
Henry
H
Cottrill
Carol
C
D000168:Acrocephalosyndactylia / Q000235:genetics / Q000601:surgery*; D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities; D001024:Aortic Valve Stenosis / Q000473:pathology; D001766:Blindness / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006345:Heart Septal Defects, Ventricular / Q000473:pathology; D006801:Humans; D007738:Kyphosis / Q000473:pathology; D009896:Optic Atrophy / Q000473:pathology; D009915:Orbit / Q000002:abnormalities; D013577:Syndrome