Carpenter Syndrome

This syndrome was first described in 1901; however, it was not recognized as a distinct genetic entity until 1966 [21,22]. Inheritance is different from the other syndromic craniosyn-ostoses in that it is autosomal-recessive. It is characterized by craniosynostosis, polysyn-dactyly of the feet, brachydactyly of the phalanges, clinodactyly and occasional partial soft tissue syndactyly, cardiac anomalies, low-set ears, short obese neck, short stature, obesity and mental deficiency (Fig. 26.5).

The synostotic pattern most commonly involves the sagittal and lambdoidal sutures, but less commonly the coronal. It often results in significant malformation of the cranium. Unilateral synostosis of the coronal or lamb-doidal suture may also occur, causing significant cranial asymmetry. Mental retardation has been associated with many patients with Carpenter syndrome. This may be related to a primary brain abnormality or as the result of elevated intracranial pressure that is untreated. Orbital findings include down-slanting palpe-bral fissures, epicanthal folds, optic atrophy and corneal opacity. Cardiovascular anomalies are also common, including atrial septal defect, ventricular septal defect (VSD), pulmonic stenosis, patent ductus arteriosus (PDA) and tetrology of Fallot.

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