Abstract
A two month old male child presented to emergency of B. P. Koirala Institute of Health Sciences (BPKIHS), Dharan and was admitted to Paediatric ward with history of fever, cough and respiratory distress. On examination the breathing was rapid and shallow. The child was small for age with an upper to lower segment ratio of 1.9. The anteroposterior diameter of thorax was reduced. We report a very rare case of achondroplasia which was recognized in a two month age child who presented with severe pneumonia. Usually the clinically features of achondroplasia is more prominent when the child is growing in height but we diagnosed it in a two months child after performing the skeletal survey. DOI: http://dx.doi.org/10.3126/jnps.v31i3.5363 J Nep Paedtr Soc 2011;31(3): 216-224-226
Highlights
Achondroplasia is autosomal dominant disorder and is the most frequent form of short–limb dwarfism
Achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located at 4p16.3
The respiratory distress was in the form of nasal flaring and chest in drawing for which a diagnosis of severe pneumonia was made so the child was treated with standard protocol for treating severe pneumonia namely; cefotaxime, gentamycin, oxygen, intravenous fluid and nil per orally
Summary
Achondroplasia is autosomal dominant disorder and is the most frequent form of short–limb dwarfism. The respiratory distress was in the form of nasal flaring and chest in drawing for which a diagnosis of severe pneumonia was made so the child was treated with standard protocol for treating severe pneumonia namely; cefotaxime, gentamycin, oxygen, intravenous fluid and nil per orally. The upper segment was bigger than the lower segment and these clinical manifestations made one to think about achondroplasia so a skeletal survey and anthropometric examination was further performed. X-ray of pelvis with bilateral lower limb anteroposterior view was performed which showed bilateral femora along with a short and wide tibiae with increased radiolucency at the upper end of femora and retarded ossification. X- Ray of skull lateral view was performed which showed the bony calvarium large with a small sella. This child was kept in group 3 in which there was history of airway obstruction but there was no hydrocephalus
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