Severe perinatal skeletal dysplasia has not been reported in association with TRPV6. Our case has intriguing similarities to severe antenatal‐onset Caffey disease including polyhydramnios, hyperostosis, periosteal reaction, and progressive resolution of bony lesions over time (Schweiger et al., 2003), although we did not observe soft tissue swellings or fever. This evidence concerns the gene TRPV6 and Caffey disease.