Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

Abstract

Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. She had hypophosphatemia, which is a known association in this dysplasia. She also had advanced bone age, which is an unreported feature of this dysplasia. This condition is caused by activating mutations in FGFR1. A missense mutation was detected in the FGFR1, NM_001174067 (FGFR1_v001):c.1115G > A [p.(Cys372Tyr)] confirming the diagnosis; this is the first mutation-proven case to be reported from India.

Keywords

craniosynostosis - hypodontia - FGFR1 - nonossifying fibroma - brachydactyly

Authors' Contributions

S.K. prepared the manuscript and performed detailed literature search. K.E.W. performed molecular studies and interpretation, and wrote the discussion on molecular aspect. D.Y. performed the literature search and helped in the manuscript preparation. A.G. critically evaluated the manuscript and contributed suggestions. S.N. conceived the idea of drafting this paper and performed the final drafting, and will act as the guarantor of the manuscript.

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