Browsing by Author "Ghosh, Aneesh"

Now showing 1 - 1 of 1
  • Thumbnail Image
    Item
    Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
    (Thieme, 2017-12) Kuthiroly, Shwetha; Yesodharan, Dhanya; Ghosh, Aneesh; White, Kenneth E.; Nampoothiri, Sheela; Medical and Molecular Genetics, School of Medicine
    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.