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Thematic Areas : Medical Sciences
Publisher : J Pediatr Genet
Source : Pediatr Genet, Volume 6, Issue 4, p.247-251 (2017)
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2017
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 . A missense mutation was detected in the , NM_001174067 ( _v001):c.1115G A [p.(Cys372Tyr)] confirming the diagnosis; this is the first mutation-proven case to be reported from India.
Cite this Research Publication : S. Kuthiroly, Dhanya Yesodharan, Ghosh, A., White, K. E., and Nampoothiri, S., “Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.”, J Pediatr Genet, vol. 6, no. 4, pp. 247-251, 2017.