Background

Achondroplasia, the most common form of skeletal dysplasia, is characterized by rhizomelic limb shortening, macrocephaly, and distinctive facial features. Prenatal diagnosis relies on ultrasound findings and genetic testing, and the condition poses challenges due to its variable prognosis and significant clinical manifestations. This case report describes the prenatal diagnosis of achondroplasia at 22 weeks of gestation and discusses the clinical features, differential diagnosis, and multidisciplinary management.

Case Presentation

A 36-year-old woman, gravida 2 para 1, was referred at 22 weeks of gestation for evaluation after a second-trimester ultrasound revealed rhizomelic limb shortening, macrocephaly, and a narrow thoracic cavity. Amniocentesis confirmed heterozygous FGFR3 mutation diagnostic of achondroplasia. After multidisciplinary counseling, the parents opted to continue the pregnancy. Postnatal care was planned with a focus on respiratory support, orthopedic monitoring, and genetic counseling.

Discussion

Achondroplasia results from a mutation in the FGFR3 gene and follows an autosomal dominant inheritance pattern, often occurring de novo. Key differential diagnoses include hypochondroplasia and thanatophoric dysplasia. Multidisciplinary management is essential to address complications such as respiratory distress, spinal stenosis, and orthopedic deformities.

Conclusion

Early prenatal diagnosis of achondroplasia allows for informed parental decision-making and comprehensive postnatal care planning. A collaborative approach among obstetricians, geneticists, and pediatric subspecialists is critical for optimizing outcomes.