A Term Female Neonate with Achondroplasia: A Case Report
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Case Report :
A 2800g, 38 weeks female neonate was born by elective cesarean to a gravida II. Maternal age was 38 years and paternal age of 45 years. Respiratory distress was reported soon after birth for which the infant required NICU admission. Antenatal ultrasound showed polyhydramnios, shortening of proximal limbs and a large head. Previous one male sibling was normal. There was no history of similar illness in the family. The neonate at birth had typical features of achondroplasia like short proximal limbs, large head, depressed nasal bridge, excess skin creases, short stubby fingers along with trident hand. Respiratory distress was due to transient tachypnoea of the newborn and settled with oxygen therapy within 6 hours. Skeletal X-ray showed short iliac bones with flat acetabular roof and short tubular bones. Consent for genetic analysis was taken from parents, which showed G1138A mutation in the FGFR3 gene located on chromosome 4p16.3. Based on perinatal history, clinical features and investigations a diagnosis of achondroplasia was
made. She was discharged on the 5th day......

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