Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations. Histopathological analysis revealed benign fibro-osseous lesions resembling cemento-ossifying fibromas of the jaw without psammomatoid bodies. A novel, de novo, heterozygous, missense mutation was identified in exon 15 of ANO5 (c.1553G>A; p.Gly518Glu). Our findings broaden the phenotypic and molecular spectra of GDD. Fractures early in life with progressive facial swelling are key features. We assessed his response to a total of 7 pamidronate infusions commencing at age 15months. Additional reports must further elucidate the phenotype, explore any genotype-phenotype correlation, and evaluate treatments.

Adolescent patellofemoral pain: implicating the medial patellofemoral ligament as the main pain generator.

PURPOSE: The purpose of this study is to define the clinical presentation of adolescent patellofemoral pain. METHODS: A review was completed of all patients with patellofemoral pain at a children's hospital sports clinic over a 3-year period. RESULTS: One hundred and one patients (91 female) with 136 symptomatic knees were identified. Mean age was 14.4 years. Knee pain was localized to the anteromedial or anterior region of the knee in 96% of patients and was typically produced with running (94%), jumping (92%) and stair use (69%). On physical examination there was usually a non antalgic gait (99%), no patellofemoral crepitation (98%), normal lower extremity angular (84%) and rotational alignment (94%), with no foot malalignment (>97%). The medial patellofemoral ligament (MPFL) was the most palpably tender area of the knee in 98% of patients. During "lateral apprehension" testing, 89% had pain at the MPFL, but not true apprehension. A "J-sign" was present at terminal knee extension in 65%. Mean Q-angle was 18.7 degrees . Means of all radiographic measures were within normal ranges. CONCLUSION: The prototypical patient had anterior/anteromedial knee pain of insidious onset during running and jumping. The most consistent physical findings were focal tenderness at the MPFL, positive terminal J-sign, and an elevated Q-angle. Most patients required only nonsurgical treatments, but 18% underwent surgical interventions for persistent pain.