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

Abstract

Background: 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.

Keywords: chondrodysplasia punctata; congenital malformation; newborn; skeletal dysplasia.

Figure 1

Radiograph of the pelvis – bilateral punctate calcifications in the region of hip joints and lumbosacral spine.

Figure 2

Radiograph demonstrates stippled calcifications in the tarsal bones and in the surrounding soft tissues.

Figure 3

Plain chest radiograph showing thoracic spine defects.

Figure 4

Chest radiograph – bilateral diffuse calcifications in the region of thoracic spine and in the tracheal cartilages.

Figure 5

Lateral radiograph of cervical spine.

Figure 6

MR examination – sagittal plane, T2-weighted image – anterior subluxation of C1 vertebra relative to C2 with severe spinal canal stenosis causing severe cord compression.

Figure 7

Axial CT scans – punctate calcifications in cervical vertebrae, around left humeral joint (A) and in the cartilages of the trachea (B).

Figure 8

Sagittal CT scan of cervical spine demonstrates punctate calcifications of tracheal and laryngeal cartilages.