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At a glance

Syndrome of unknown etiology with variable expression characterized mainly by nonossifying fibromata, extraskeletal congenital anomalies such as café-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular malformations. Other clinical features include chylothorax, stenosis of aortic isthmus, mitral insufficiency, chylopericardium, mental retardation, and precocious puberty.

Synonym

Multiple Nonossifying Fibromatosis.

Incidence and genetic inheritance

Incidence is unknown. Genetics are not understood. Males and females appear to be equally affected. There usually is no family history of the syndrome or of neurofibromatosis, which has similar characteristics.

Clinical aspects

Usually presents between the ages of 10 and 15 years, typically with a pathologic fracture. Smooth-bordered café-au-lait spots, axillary freckling, and multiple nonossifying fibromas are present without soft tissue neurofibromas.

Anesthetic considerations

Be careful with handling and movement in view of the predisposition to pathologic fractures.

References

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Hau  MA, Fox  EJ, Cates  JM,  et al: Jaffe-Campanacci syndrome. A case report and review of the literature. J Bone Joint Surg Am 84A:634, 2002.
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Stewart  DR, Brems  H, Gomes  AG,  et al: Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med 16(6):448–459, 2014.  [PubMed: 24232412]

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