Chondrodysplasia punctata: a clinical diagnostic and radiological review

Abstract

Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.

Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome

“…2 It is characterized by abnormal calcification in cartilaginous skeleton along with some extraosseous sites and by consistent facial dysmorphism phenotype with depressed nasal bridge. 3 Spranger et al 4 reported two types of CDP: milder, X-linked dominant Conradi-Hunermann syndrome with good prognosis, and severe, X-linked recessive rhizomelic form with lethal outcome. Irving et al 3 divided CDP into three classes:chromosomal,associated with metabolic abnormalities and deranged vitamin K metabolism.…”

“…3 Spranger et al 4 reported two types of CDP: milder, X-linked dominant Conradi-Hunermann syndrome with good prognosis, and severe, X-linked recessive rhizomelic form with lethal outcome. Irving et al 3 divided CDP into three classes:chromosomal,associated with metabolic abnormalities and deranged vitamin K metabolism.…”

“…3,5,6 Exact etiopathogenesis of CDP related to vitamin K metabolism is unknown. Conradi-Hunermann syndrome CDP as a result of vitamin K dependent enzyme arylsufatase E deficiency is also included in this group.…”

Malformation syndromes caused by disorders of cholesterol synthesis

“…6B ). Epiphyseal stippling can be found in numerous genetic and acquired disorders; however, the stippling found in CDPX2 is often more widespread, with involvement of the vertebrae and tracheal cartilage, in addition to the long bones ( 232 ). Stippling cannot be detected after normal epiphyseal ossifi cation occurs.…”

Enfermedad peroxisomal, condrodisplasia rizomelica punctata tipo 1: reporte de caso

“…Regarding punctate calcifications of the cartilage, although they constitute a key radiological finding, they are temporary and they will not be evident after the first or second year of life 13 .…”