Diagnosis of Achondroplasia at Birth: A Case Report

  • Suzit Bhusal Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
  • Uttara Gautam Department of Pediatrics Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
  • Rajan Phuyal Department of Pediatrics Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
  • Robin Choudhary Department of Pediatrics Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
  • Sunil Raja Manandhar Department of Pediatrics Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
  • Aliska Niroula Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
Keywords: achondroplasia; dwarfism; ultrasonography

Abstract

Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-one years old multipara mother gave birth to a baby with achondroplasia via spontaneous vaginal delivery with episiotomy without any complication. Achondroplasia, in this case, was diagnosed on the basis of antenatal ultrasonography finding, clinical features and radiological finding of the baby. He was admitted in the special baby care unit for observation and discharged on the next day as no complications were noted.

Published
2020-02-29
How to Cite
Bhusal, S., Gautam, U., Phuyal, R., Choudhary, R., Manandhar, S. R., & Niroula, A. (2020). Diagnosis of Achondroplasia at Birth: A Case Report. Journal of Nepal Medical Association, 58(222). https://doi.org/10.31729/jnma.4846

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