Antenatal Approach to Skeletal Dysplasia: Case Report of Chondrodysplasia Punctata

Dr. Laxmi Chouhan, Dr. Omprakash Tavri

Abstract: Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by abnormal cartilage development and punctate calcifications. We report a case of a 32-year-old multigravida woman referred at 22 weeks' gestation for a routine anomaly scan that revealed stippled femoral epiphyses, flat facies, depressed nasal bridge, increased frontonasal angle, and polyhydramnios, raising suspicion for skeletal dysplasia. Amniocentesis identified a pathogenic variant in the EBP gene, confirming the diagnosis of X-linked dominant CDP. Following multidisciplinary counseling, the couple opted to continue the pregnancy with plans for palliative care. Serial ultrasounds monitored fetal growth. At 38 weeks, the patient underwent cesarean delivery of a female infant exhibiting characteristic CDP features, including limb shortening, dysmorphic facies, and epiphyseal calcifications. The neonate developed respiratory distress and metabolic abnormalities, necessitating admission to the neonatal intensive care unit for respiratory support, metabolic management, and genetic evaluation. This case highlights the importance of detailed prenatal ultrasound evaluation, genetic testing, multidisciplinary counseling, and anticipatory management in the care of fetuses with CDP. Early diagnosis enabled informed decision-making and preparation for postnatal care of this complex skeletal dysplasia.

Keywords: Chondrodysplasia Punctata, Skeletal Dysplasia, Prenatal Diagnosis, Ultrasonography, Genetic Testing, Genetic Counseling