Chondrodysplasia Punctata

Stippled, or punctate, epiphyseal calcification on an infant radiograph is the hallmark of chondrodysplasia punctata, which is a heterogeneous group of skeletal dysplasias rather than a single disease, and the stippling characteristically resolves as the child grows. I would then work to identify the form, because they differ greatly in severity and management. The rhizomelic form is the most severe: it is an autosomal-recessive peroxisomal biogenesis disorder, with symmetric rhizomelic, proximal-limb, shortening, profound developmental delay, congenital cataracts and contractures, and it is often lethal in early childhood. Conradi-Hunermann syndrome is X-linked dominant, due to EBP mutations, affects mostly females, and is milder and survivable; its clue is asymmetry - asymmetric limb shortening with limb-length discrepancy, scoliosis, and ichthyosis following Blaschko's lines, with cataracts. There is also an X-linked recessive brachytelephalangic form with nasal and distal-phalangeal hypoplasia. Crucially, I would take a maternal history, because important teratogenic phenocopies exist: maternal warfarin in pregnancy causes warfarin embryopathy, and maternal autoimmune disease such as systemic lupus erythematosus can also produce stippled epiphyses. So I would classify the form with genetic and metabolic testing - peroxisomal studies for the rhizomelic form, EBP or arylsulfatase testing for the X-linked forms - alongside the maternal drug and autoimmune history. Management is multidisciplinary and form-dependent: largely supportive and palliative for the severe rhizomelic form, and for survivable forms orthopaedic management of limb-length discrepancy, scoliosis and contractures, with ophthalmology for cataracts and genetic counselling.