Clinical Features of Phenotypic Signs of Connective Tissue Dysplasia in Children with Community-Acquired Pneumonia

Relevance. Connective tissue dysplasia (CTD) is a group of genetically determined disorders that result from abnormal synthesis of connective tissue structural proteins such as collagen, elastin, and fibril. In pediatric practice, CTD is a multisystem pathology with a diverse clinical picture, often disguised as functional abnormalities, which complicates early diagnosis. Phenotypic features, especially in children, are key in establishing a preliminary diagnosis, since it is in childhood that most clinical manifestations are subclinical or latent.