Publication: Diagnosis of Achondroplasia at Birth: A Case Report
Date
2020
Article Type
Case Report
Journal Title
Journal ISSN
JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X
Volume Title
Pages
Pages: 119 - 121
Publisher
Nepal Medical Association
Abstract
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.
Keywords: achondroplasia; dwarfism; ultrasonography
Description
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
Identifier
https://doi.org/10.31729/jnma.4846