Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry

Malka Forman, Maria F. Canizares, Deborah Bohn, Michelle A. James, Julie Samora, Suzanne Steinman, Lindley B. Wall, Andrea S. Bauer, Donald S. Bae, Charles A. Goldfarb, Patricia E. Miller

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Background:Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes.Methods:Data were collected from the Congenital Upper Limb Differences (CoULD) registry. Congenital differences are classified in the registry with use of the Oberg-Manske-Tonkin (OMT) classification system. Diagnosis of a syndrome by a physician as noted in the CoULD registry was recorded. Thumb deficiency and radial deficiency were classified according to the modified versions of the Blauth criteria and the Bayne and Klug criteria, respectively.Results:We identified 259 patients with 383 affected limbs with radial deficiency. Eighty-three of these patients had a diagnosed syndrome. The severity of radial deficiency was correlated with the severity of thumb deficiency. The Kendall tau coefficient indicated significant correlation between radial severity and thumb severity (tau = 0.49 [95% confidence interval = 0.40 to 0.57]; p < 0.05). Subjects with a syndrome were twice as likely to have bilateral deficiency and 2.5 times more likely to have both radial and thumb deficiency compared with subjects without a syndrome. Subjects with VACTERL syndrome (vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) had patterns of thumb and radial deficiency similar to the general cohort, whereas subjects with Holt-Oram syndrome, TAR (thrombocytopenia absent radius) syndrome, and Fanconi anemia demonstrated varied presentations of thumb and radial deficiency.Conclusions:The present study investigated the characteristics of patients with radial longitudinal deficiency and thumb hypoplasia. Our results support the findings of previous research correlating the severity of radial deficiency with the severity of thumb deficiency. Furthermore, we identified characteristic features of patients with radial longitudinal deficiency and associated syndromes.

Original languageEnglish (US)
Pages (from-to)1815-1822
Number of pages8
JournalJournal of Bone and Joint Surgery
Issue number20
StatePublished - Oct 21 2020
Externally publishedYes

Bibliographical note

Funding Information:
Disclosure: The Harold Williams Summer Research Fellowship was provided by Tufts University School of Medicine to support a student researcher (M.F.). No other sources of funding were used, and funding did not play a role in the study. On the Disclosure of Potential Conflicts of Interest forms, which are provided with the online version of the article, one or more of the authors checked “yes” to indicate that the author had a relevant financial relationship in the biomedical arena outside the submitted work and “yes” to indicate that the author had other relationships or activities that could be perceived to influence, or have the potential to influence, what was written in this work ( ).

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© 2020 Lippincott Williams and Wilkins. All rights reserved.


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