An Overview of Clinical Manifestations in Chondrodysplasia Punctata

Abstract

Introduction: chondrodysplasia punctata (CDP) is a rare, autosomal recessive disorder characterized by the punctuate calcifications of long bones epiphyses, cataract, and developmental delay. CDP is associated with inborn errors of metabolism, chromosomal abnormalities, and teratogens. The routine fetal autopsy was performed in 23+1 weeks abortus fetus showed dysmorphic facies, bilateral brachydactyly, and overriding of the toes, and X-ray examination suggested stippling of the epiphysis of long bones. Coronal clefts were seen in the region of the lumbar vertebrae. In this case, genetic counseling was offered to the couple. The diagnosis of CDP on autopsy was made after the radiological examination; hence this case also illustrates the importance of radiology in fetal autopsies. Molecular analysis is required for final diagnosis in such cases. © 2023 Brazilian Society of Anatomy. All rights reserved.