Chondroangiopathia calcarea seu punctata; review and case report.

Abstract

The prenatal recognition of developmental abnormalities is now a fundamental of diagnostic radiology. Within the past two years we have seen the same mother bear two successive fetuses showing anomalies of development. In each instance roentgen studies prior to delivery revealed the presence of an abnormal fetation. In February 1949, routine antepartum studies showed bony maldevelopment of the fetus and the mother was subsequently delivered of a stillborn achondroplastic dwarf which, in addition, was a typical cyclops monster. Twenty-one months later a second pregnancy was investigated by means of roentgenograms and a similar skeletal malformation with an interesting variant was noted. Chondroangiopathia calcarea seu punctata was originally described from pathological material by Langhans in 1893, and the first roentgen studies of a case were reported by Conradi in 1914. The essential feature of the disease is the presence of stippled foci of calcification within the hyaline cartilage in the fetal stage or during early infancy. Many names have been applied to this embryological disorder, as chondrodystrophia congenita calcificans, chondrodysplasia congenita calcificans, chondroangiopathia calcarea congenita, stippled epiphyses, punctate epiphyseal dysplasia, and chondrodystrophia punctata. Selection of the designation “chondroangiopathia calcarea seu punctata” is in conformity with Cocchi's nomenclature in Schinz' new Lehrbuch der Rontgendiagnostik. The term “punctata” adequately describes the radiological characteristics and “chondroangiopathia is descriptive of the abnormally coursing blood vessels and cartilage columns as seen histologically. The infrequent appearance of this disease places it among the group of rare developmental anomalies. The reports in the literature indicate that it is a familial condition, although the exact nature of the disturbance is unknown. Syphilis has not been demonstrated to be a factor. Inasmuch as both parents and children have shown stigmata, the influence of prenatal injury is unlikely. Apparently the calcifications within the cartilage originate sometime in later intra-uterine life, are present at birth, and are frequently first diagnosed during early infancy. Although the disease may be an isolated entity, it is at times associated with complete or partial dwarfism, such as brachydactylism, shortened femora, or achondroplasia foetalis. According to Cocchi, there is a disturbance in the vascularization of the epiphyseal cartilage and of the cartilaginous anlage of the small bones of the extremities. The cartilaginous columns show degrees of divergence from their usual parallel arrangement. The calcium deposits as a nidus about the terminal portion of the abnormally disposed vessels. Whether the primary anomaly is within the blood vessels or the vessels are merely parallel to the abnormally coursing cartilage columns is not known.