Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

Abstract

SummaryBackground:Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome.Case Report:This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP.Conclusions:Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy.Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.

Rare Association of Fetal Chondrodysplasia Punctata in Maternal SLE: A Case Report

“…There are four main types of CPD, the autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, the X-linked dominant form (Happle) and the X-linked recessive brachytelephalangic type (CDPX1) [9]. The typical features of CDP include punctate calcifications in the tracheal, laryngeal, bronchial and nasal cartilages, as well as around the joints and vertebra during the neonatal period and infancy [10] and disappears around the 2nd and 3rd year of life. There is insufficient bone mineralization, symmetrical or asymmetrical shortening of proximal limb bones, butterfly vertebrae, abnormal vertebral curvature and usually kyphoscoliosis [10].…”

“…The typical features of CDP include punctate calcifications in the tracheal, laryngeal, bronchial and nasal cartilages, as well as around the joints and vertebra during the neonatal period and infancy [10] and disappears around the 2nd and 3rd year of life. There is insufficient bone mineralization, symmetrical or asymmetrical shortening of proximal limb bones, butterfly vertebrae, abnormal vertebral curvature and usually kyphoscoliosis [10].…”

Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency

“…In a subset of the post-squalene pathway disorders, chondrodysplasia punctata (CDP) is observed (Jurkiewicz et al, 2013). This rare skeletal phenotype is characterized by the observation of dot-like calcium deposits, or punctate, within cartilage on radiographs (Irving et al, 2008;Jurkiewicz et al, 2013;Lykissas, 2013). A result of ectopic calcification, the punctate is most often observed at the end of long bones and within cartilage around joints and the vertebral column (Jurkiewicz et al, 2013).…”

“…This rare skeletal phenotype is characterized by the observation of dot-like calcium deposits, or punctate, within cartilage on radiographs (Irving et al, 2008;Jurkiewicz et al, 2013;Lykissas, 2013). A result of ectopic calcification, the punctate is most often observed at the end of long bones and within cartilage around joints and the vertebral column (Jurkiewicz et al, 2013). Our understanding of how mutations in the post-squalene cholesterol biosynthesis pathway lead to abnormal skeletogenesis and CDP is limited.…”

Mucopolysaccharidosis II, IV-A and VI: First Colombian Neuropsychological Characterization

“…This syndrome manifests itself with difficulties such as skeletal chondrodysplasia, heart disease, corneal opacity, dwarfism and visceral involvement. Unlike other types of MPS, it is characterized by normal intelligence, a life expectancy of 20-30 years of age and a phenotype that varies from the classical form [13][14][15].…”