A Study Of Congenital Skeletal Limb Deficiencies

Robert L. Burtch


During the past decade and a half, and in particular as a result of the recent upsurge of congenital skeletal limb deficiencies associated with the use of the drug thalidomide by pregnant women in Germany, there has been an increasing awareness of the complexity of the anomalies that occur and the difficulties associated with describing and classifying these conditions.

In December 1961, Drs. Charles H. Frantz and Ronan O'Rahilly1 published an article in the Journal of Bone and Joint Surgery "... in an endeavor to standardize nomenclature ..." used in the classification of congenital skeletal limb deficiencies.

The importance of establishing a standardized classification scheme is further emphasized by Hall, Brooks and Dennis2 in a subsequent article: "...Lack of a logical scheme of diagnostic classification has prevented the inclusion of this vital information in the birth records in all but a few medical centers ... Prevention of disease in general and of anomalies in particular requires detection of the etiology. Discovery of the etiology often depends on an accurate knowledge of incidence. Until the rate of occurrence is known, the multiplicity of pathogenesis ... cannot be evaluated and assessed as to their role in the human ..."

The collection of data and subsequent difficulties encountered in attempts at providing classifications for children in the Child Prosthetic Studies Normative Survey has also made it most apparent that there is a pressing need for a standardized classification system. Inherent in any such scheme is the need for a tool or instrument by which accurate descriptions of the skeletal elements may be obtained.

In October 1962, the Subcommittee on Children's Prosthetics Problems requested that NYU Child Prosthetic Studies develop a research design for a study to describe and classify congenital skeletal limb deficiencies. This design was subsequently submitted and approved by the Subcommittee in January 1963.

The following is a brief outline of the study, the first phase of which was initiated on April 1, 1963.


The purpose of the study is to:

  1. Provide participating clinics with the instrumentation for recording accurate descriptions of limb anomalies.

  2. Provide the means and format for subsequent standardized classifications.

  3. Provide a central "pool" into which the above data may be channeled in order to establish a "running account" of the types and incidence of congenital skeletal limb deficiencies over a long-term period. Comparisons of incidence at different periods can thus be made systematically.


  1. All subjects (below age 21) exhibiting congenital skeletal limb deficiencies will be reported by participating clinics on a standard Description-Classification Form (see attached form and instructions) .

    Form 1 , Form 2

  2. As each clinic completes these forms, they will be forwarded to the Child Prosthetic Studies for checking, final classification and processing.

  3. Cases presenting classification problems will be referred to an Advisory Committee appointed by the Subcommittee for review and final classification.

  4. A recording and data collection system has been established at New York University to provide permanent records and to facilitate prompt and efficient processing, as well as periodic analysis and reporting.

  5. Periodic reports will be issued by NYU Child Prosthetic Studies to all participating clinics which will include discussion of results, as well as of problems that may have arisen concerning the classification of atypical cases.


Since there is no universally accepted classification terminology in use at the present time, the scheme described by Frantz-O'Rahilly is used as a basis for the study. Initially, forms for 20 subjects only will be submitted by each clinic to determine the adequacy of the forms and classification plan. Following a review of the results, modifications, if required, will be made in either the forms or classification scheme, or both. Additional forms will then be forwarded to all clinics, and cases available to each clinic will be reported to the Child Prosthetic Studies on a continuing basis.

Although the present study does not attempt to ascertain possible causative factors relating to congenital skeletal limb deficiencies, future studies should be considered to investigate this and other areas of interest once the initial classification data is obtained. Of special interest will be consideration of ways and means of developing and utilizing a coding system for recording general limb deficiencies data on birth certificates and more specific skeletal data on records as the child attains skeletal maturity. In the February-March, 1963 issue of the Inter-Clinic Information Bulletin, Dr. Robert C. Hamilton, of the University of Illinois, has described in some detail the development and use of a coding system based on The Standard Nomenclature of Diseases and Operations, reflecting a first major step in this direction.

Robert Burtch is Assistant Project Director, Child Prosthetic Studies, New York University, New York, New York

1. Frantz, C. H., and O'Rahilly, R.: Congenital Skeletal Limb Deficiencies. Journal of Bone and Joint Surgery, 43-A: 1202-1224, December 1961. 
2. Hall, C. B., Brooks, M. B., and Dennis, J. F.: Congenital Skeletal Deficiencies of the Ex-tremities, Journal of the American Medical Association, 181: 590-599, August 1962.