FOP patients exhibit a characteristic set of congenital spine malformations. While the noggin gene (NOG) is not mutated in patients who have FOP, these findings extend a growing body of evidence implicating overactivity of the BMP signaling pathway in the molecular pathogenesis of FOP.

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The etiology of congenital scoliosis is largely unknown. The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation. Scoliosis has been observed in a heterozygous DLL3 carrier, raising the possibility of its involvement in congenital scoliosis. We present the first molecular study of congenital scoliosis by analysis of the candidate gene DLL3 and demonstrate one novel missense variant. However, no novel or previously described mutations are present in our cohort, indicating that DLL3 mutations may not be a major cause of congenital scoliosis. Additionally, we have evaluated patients with congenital scoliosis not diagnosed with a known syndrome and identified a significant number of associated renal and cardiac anomalies and familial incidence of idiopathic scoliosis in this group.

Objective. Coracoid impingement has been recognized as an etiology for anterior shoulder pain; however, no imaging reference standard exists. We used sonography to compare the coracohumeral interval (CHI) in asymptomatic volunteers with the CHI in patients with coracoid impingement. Methods. Bilateral shoulder sonography was performed in 19 asymptomatic volunteers (10 men and 9 women) and in 8 shoulders in 7 patients (6 men and 1 woman) with a clinical diagnosis of coracoid impingement. With the arm adducted across the chest, the interval between the coracoid process and the lesser tuberosity of the humerus was measured using a linear array ultrasound transducer with a peak frequency of 13 MHz. Results. In the asymptomatic volunteers, the mean ± SD for the CHI was 12.2 ± 2.5 mm (range, 7.8-17.5 mm). In the symptomatic shoulders, the mean ± SD for the CHI was 7.9 ± 1.4 mm (range, 5.9-9.6 mm). Repeated measures analysis of variance revealed the CHI to be significantly narrower in symptomatic shoulders than in asymptomatic volunteers (P < .0001). Conclusions. These data suggest a role for sonography in diagnosing coracoid impingement. Key words: coracohumeral interval; coracoid impingement; shoulder. Most commonly, impingement of the supraspinatus tendon occurs deep to the coracoacromial arch. Less commonly, the space between the coracoid and the lesser tuberosity (ie, the coracohumeral interval [CHI]) is too narrow to allow unencumbered passage of the subscapularis tendon.2 This results in the entity known as coracoid impingement, which can be difficult to identify on both physical examination and imaging studies.Cadaveric studies have revealed tremendous variability in the bony anatomy of the coracoid process and subcoracoid recess.3 Plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI) all have been used to evaluate the CHI. [4][5][6] Unfortunately, although plain radiography can provide evidence of classic impingement and degenerative changes, it does not show any specific signs predictive of coracoid impingement.5 Standard CT and MRI allow only static evaluation