Chondrodystrophia calcificans congenita is a poorly understood and infrequently recognized condition. Early diagnosis is important for genetic counseling and proper management. Two living patients and three autopsied cases were studied. All had pathognomonic facies with deficient nasal bones producing a saddle nose deformity, micromelia, rhizomelia, and characteristic roentgenograms in the first year of life with punctate deposits of calcium in the preosseous and osseous cartilage of the body. Neurological manifestations were common. One with cerebral atrophy had spastic diplegia, optic atrophy, and severe psychomotor retardation, and another had a Dandy-Walker malformation. Cataracts, congenital heart disease, joint contractures, dislocated hips, skin rash with alopecia, and failure to thrive resulting in early death were also observed. Multisystem involvement suggests an underlying inborn error of metabolism.
Tasker WG, Mastri AR, Gold AP. Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata): Recognition of the Clinical Picture. Am J Dis Child. 1970;119(2):122–127. doi:10.1001/archpedi.1970.02100050124006
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