Chondrodysplasia punctata is a term encompassing a group of inherited skeletal dysplasias characterized by calcified deposits on the epiphyseal parts of the bone and cartilage, and they are termed stippling. The clinical presentation somewhat depends on the subtype, but commonly involves shortening of the extremities, facial changes, spinal deformities, ocular abnormalities, developmental delay and congenital heart disease. The diagnosis rests on a thorough clinical workup, imaging studies, and genetic testing.
Chondrodysplasia punctata (CDP) is a term that comprises several congenital disorders with different modes of inheritance. They are rarely encountered in clinical practice and the two principal types are   :
The rare occurrence of CDP in general practice (< 1 in 100,000 patients) indicates that the condition may be difficult to diagnose without a thorough workup . For this reason, physicians must perform a complete neurological, cardiorespiratory, and mental examination, preceded by a patient history that will evaluate the potential presence of similar disorders within the family . After the initial assessment, imaging studies should be performed. Ultrasonography and plain radiography are two very useful first-line methods that are able to confirm the presence of epiphyseal stippling and punctate calcifications, as well as hypoplasia of facial bones and the distal extremities  . Ultrasonography provides an additional benefit in that, it has the ability to detect changes prenatally , thus providing sufficient time to plan adequate therapeutic strategies. Moreover, cardiac ultrasonography (both prenatally and postnatally) has been recommended as a mandatory imaging study in CDP patients due to the high rate of congenital heart disease . A comprehensive neurological testing, particularly in the presence of epilepsy (through electroencephalography, evoked potentials, and other similar studies), is also warranted . Finally, genetic testing of both the parents and the patient should be conducted  .