The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Research Abstract Details 

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The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Abstract Text:

David A Stevenson,David H Viskochil,Elizabeth K Schorry,Alvin H Crawford,Jacques D'Astous,Kathleen A Murray,J M Friedman,Linlea Armstrong,John C Carey,

Neurofibromatosis type 1 is diagnosed clinically based on the presence of two of seven criteria developed by a panel of experts in 1987. The sixth criterion focuses on skeletal findings and is as follows: "A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudarthrosis." The wording for this criterion is misleading. In particular, "thinning of long bone cortex" is not the characteristic radiographic presentation, and no mention of long bone bowing is included. The distinctive clinical feature of long bone dysplasia in neurofibromatosis type 1 is anterolateral bowing of the lower leg (portion of the body delimited by the knee and ankle). The usual radiographic findings of long bone dysplasia in neurofibromatosis type 1 at first presentation, prior to fracture, are anterolateral bowing with medullary canal narrowing and cortical thickening at the apex of the bowing. We suggest that anterolateral bowing of the lower leg, with or without fracture or pseudarthrosis, is a more appropriate description of the primary finding that a clinician will use to fulfill the sixth diagnostic criterion for neurofibromatosis type 1. Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1.

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Publishing Authors By Initials

DA Stevenson,DH Viskochil,EK Schorry,AH Crawford,J D'Astous,KA Murray,JM Friedman,L Armstrong,JC Carey,

For similar musculoskeletal system: skeleton: bone and bones: bones of lower extremity: leg bones: tibia research abstracts see: musculoskeletal system: skeleton: bone and bones: bones of lower extremity: leg bones: tibia research

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The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Journal Published:

PUBLICATION TYPE: Review

Journal: Genetics in medicine : official journal of the Ame

VOLUME: 9

Page Numbers: 409-12

Journal Abbreviation: Genet. Med.

ISSN: 1098-3600

DAY: 3

MONTH: Jul

YEAR: 2007

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Information

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LANGUAGE: eng

NlmUniqueID: 9815831

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Keywords Mesh Terms:

KEYWORDS: Tibia

MESH TERMS: radiography

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Grant and Affiliation Information for The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.

AFFILIATION: Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

Country: United States

AGENCY: United States NINDS

GRANT: R01 NS050509-01A1

ACRONYM: NS

MEDLINETA: Genet Med

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