Introduction: Achondroplasia, the most common form of skeletal dysplasia with characteristic short limb dwarfism, is a non lethal variant of chondrodysplasia. Although autosomal dominant genes may be the source of inheritance, most occurrences start off as spontaneous mutations.
Case report: Our patient was a term male baby born via elective Caesarean section with birth weight of 2.8kgs. Anomaly scans of 22 weeks of gestation showed no gross anomaly of the fetus.The anomaly scan of 36th week of gestation showed a small size of fetus. On clinical examination, the head circumference was more than normal and the baby had a large head with frontal bossing. There was bilateral symmetrical shortening of upper and lower limbs with short fingers. There was depressed nasal bridge. The abdomen was protuberant and distended.
Literature review: A mutation in the 4p16.3 fibroblast growth factor receptor-3 gene (FGFR3) results in achondroplasia. One parent's achondroplasia increases the infant's probability of inheriting the disorder by 50%, and if both parents have it, the infant's chance increases to 75%. This suggests that the disorder may be inherited as an autosomal dominant characteristic.
Case Report
English
P. 105-108
