J Pediatr Genet 2017; 06(04): 247-251
DOI: 10.1055/s-0037-1602816
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

Shwetha Kuthiroly
1  Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India
,
Dhanya Yesodharan
1  Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India
,
Aneesh Ghosh
2  Department of Endocrinology Medicine, Ananthapuri Hospitals and Research Centre, Thiruvananthapuram, Kerala, India
,
Kenneth E. White
3  Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States
,
Sheela Nampoothiri
1  Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India
› Author Affiliations
Further Information

Publication History

07 January 2017

10 April 2017

Publication Date:
05 May 2017 (eFirst)

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.

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.