*2-day-old male newborn.
What is the most likely diagnosis?
Answer
Answer: Chondrodysplasia punctata
Case Discussion:
Babygram imaging showed multiple punctate calcific deposits at epiphysis of elbow, shoulder, hip and knee joints.
Chondrodysplasia punctata has a number of synonyms: Chondrodystrophia punctata, stippled epiphyses, Chondrodystrophia calcificans congenita, and dysplasia epiphysealis punctata.
Chondrodysplasia punctata can be broadly divided into:
• Rhizomelic type—autosomal recessive
• Conradi-Hünermann type—autosomal dominant and X-linked dominant forms
• Other types
References:
1. Spranger, J., Opitz, J. M., Bidder, U.: Heterogeneity of chondrodysplasia punctata. Humangenetik 11, 190 (1971)
2. Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008 Oct;17(4):229-41.