Purpose: Radial longitudinal deficiency (RLD) is associated with certain syndromes and medical and musculoskeletal conditions. The purpose of this investigation was to evaluate the incidence of these conditions with RLD.
Methods: A comprehensive chart review identified patients with RLD and a complete medical record. These charts were evaluated for the presence of associated medical and musculoskeletal conditions and biographic information on gestation, delivery, and family history.
Results: A total of 164 patients with 245 affected extremities were identified; 138 patients had radius abnormalities and 26 patients had isolated thumb hypoplasia. Twenty-five patients had thrombocytopenia absent radius syndrome; 22 patients had vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities association; 7 patients had Holt-Oram syndrome; and 1 patient had Fanconi anemia. There were 32 patients with cardiac abnormalities and 60 patients with spinal or lower-extremity musculoskeletal abnormalities. The percentage of patients with associated abnormalities increased with an increasing severity of RLD. One hundred two of the 138 patients with types I through V RLD had associated medical or musculoskeletal abnormalities. In contrast, only 9 of 26 patients with an isolated thumb hypoplasia (type 0 RLD) had associated abnormalities.
Conclusions: The high incidence of associated medical and musculoskeletal abnormalities in patients with RLD emphasizes the importance of a complete assessment including a complete musculoskeletal examination, cardiac auscultation, complete blood count, echocardiogram, renal ultrasound, and spinal radiographs. Although approximately one third of patients in this investigation had a syndrome commonly associated with RLD, most patients with RLD types I through V had an additional medical or musculoskeletal anomaly. Patients with type 0 RLD were less likely to have comorbidities.