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CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation
(Springer Nature, 2020)
CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable
phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific
clinical criteria. ...
Craniofacial, dental, and molecular features of Pyle disease in a South African child
(Springer Nature, 2022)
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition
leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental ...