OR18-6 Tracking the Diagnosis and Progression of Madelung Deformity in Pediatric Turner Syndrome Patients

Abstract

Abstract Background Turner syndrome (TS) is a chromosomal anomaly occurring in females which presents with numerous medical and developmental manifestations including skeletal deformities. A specific developmental skeletal dyplasia seen in TS patients is Madelung deformity (MD), characterized by a growth deficiency of the distal radial physis that causes excessive radial inclination and volar tilt, with resultant ulnocarpal impaction. Surgical intervention, particularly in early stages, can halt progression of or reverse MD. Despite a considerable body of literature highlighting the presence of MD in TS, it is often underdiagnosed, in part due to a lack of data documenting the epidemiology and natural history. Objective Analyze the frequency of diagnosis of MD in patients meeting key radiographic threshold criteria and document the time course of the deformity in these patients using these parameters. Methods From a database of 264 patients with a confirmed diagnosis of TS, bone age radiographs for 187 (71%) were retrospectively measured against generally accepted cutoffs for MD using two parameters: ulnar tilt = UT and lunate subsidence = LS. For patients meeting general inclusion criteria of UT > 33° or LS < 0 mm, historical measurements of UT and LS were obtained using past bone ages and patients’ charts were reviewed to determine if a clinical diagnosis of MD was made. Results 7 patients (7/187 = 3.7%) met overall inclusion criteria and had radiographs consistent with Madelung Deformity. Of these 7, only one clinical diagnosis (14%) of MD was made; this patient underwent subsequent surgical intervention. The 6 undiagnosed patients had an average UT and LS of 40.5 degrees and -4.4 mm at the time of most recent bone age (∼16.3 years old). The time-courses for 4 (UT) and 3 (LS) of the 6 non-surgical patients were plotted over time from 7.2–18.9 years of age. Patients crossed threshold at an average age of 15.3 and 13.6 years for UT and LS, respectively. Average maximum read-to-read growth rates of 5.3 degrees and 3.5 mm occurred at an average age of 15.3 (UT) and 14.2 years (LS). Conclusion Our results suggest MD is significantly underdiagnosed in patients with TS, highlighting the need for better screening tools to make this diagnosis. This would include physical examination looking for the characteristic wrist deformity and careful analysis of bone age radiographs at an earlier age, when corrective surgery is more likely to succeed. We recommend careful scrutiny of yearly bone age radiographs from 10-15 years of age to ensure that the diagnosis of MD is not missed, and obtaining bilateral wrist radiographs (PA and Lateral views) for verification. Future research should focus on documenting disease progression using radiographic trends, as well as assessing how onset and progression are affected by therapeutic interventions such as growth hormone. Presentation: Monday, June 13, 2022 12:15 p.m. - 12:30 p.m.