F02 Dysostoses with predominant involvement of limbs by Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision

Autoři/Authors: Mařík I, Smrčka V, Kuklík M, Zemková D, Maříková A.

Pracoviště/Workplace: Ambulantní centrum pro vady pohybového aparátu s.r.o.

Délka prezentace/presentation time: 20 min.

Summary:

Introduction: Classification system of congenital limb defects based on specific embryologic failure worked up Alfred B. Swanson in 1964 and 1966. In 1976 he published Classification of congenital limb malformations (division into 7 groups) and it was accepted as a standard nomenclature by World Health Organization in 1978. Later in 1997 Toshihiko Ogino on the basis of clinical and experimental studies modified Swanson´s classification. The current modified classification of congenital hand deformities according to Ogino was accepted in 2000 by IFSSH. He included a new category. Failure or abnormal induction of digital rays. International Nomenclatures of Constitutional/Intrinisic Diseases of Bones was elaborated by committed paediatric radiologists in 1969 in Paris. Only in the first 3 versions were chaotically included dysostoses with predominant involvement of limbs. Into the 6th and 7th version genetically determined dysostoses have been included.

Methods: Diagnostics is based on clinical, anthropological, genetical, radiological and molecular genetical examination. The group of patients with SD and generalized limb defect was classified according to the 7th version of Nosology and Classification of Genetic Skeletal Disorders (2006).

Results: During 17 years existence of the Ambulant Centre for Defects of Locomotor Apparatus in Prague the authors diagnosed a cohort of 101 nosologic units (categorized into 34 groups) that contains 501 patients with bone dysplasias, dysostoses and genetic disorders. A few therapeutical achievements are presented as case reports.

Conclusion: Symptomatic comprehensive treatment is focused on achievement the best function (range and/or arc of joint motion, grasp, equality of limbs), stability and gait stereotype and at the second place on aesthetics. Indications and surgical timing is often completely different (individual) in generalized deformities in comparison with isolated limb defects.