This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Roger N. Rosenberg, MD; Jon Sassin, MD; Earl A. Zimmerman, MD; Sidney Carter, MD

Arch Neurol. 1967;17(2):174-179.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Neurofibromatosis¹ and fibrous dysplasia² were both originally described by von Recklinghausen. Some authors believe these two disorders may be genetically related.^3-5ers consider them separate, unrelated entities.^6-12 The issue has yet to be resolved.

Jaffe has argued against a relationship of the two conditions. In addition to other reasons, he stated: "No one has noted among the antecedents and siblings of patients with fibrous dysplasia any special prevalence of typical neurofibromatosis. Such a prevalence would have helped to interrelate the two disorders on a genetic basis."⁹ The present study describes a unique family in which there are several individuals with neurofibromatosis and one child with fibrous dysplasia of the skull. Reports in the literature also describe similar osseous lesions, endocrinopathies, and café-au-lait spots in both syndromes. A regulator gene mutation is postulated as possibly responsible for this unusual presentation.

Description of Family

Propositus . . . [Full Text PDF of this Article]

Author Affiliations
New York

From the Neurological Clinical Research Center, Neurological Institute, and the Pediatric Neurology Division, Babies Hospital, Columbia-Presbyterian Medical Center, and the Department of Neurology, College of Physicians and Surgeons, Columbia University, New York.

Footnotes
Submitted for publication Dec 27, 1966; accepted Feb 21, 1967.

Reprint requests to Department of Neurology, Neurological Institute, College of Physicians and Surgeons, Columbia University, New York 10032 (Dr. Rosenberg).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?