AI Article Synopsis
- - Enamel renal gingival syndrome is a rare condition that includes issues like poorly formed enamel (amelogenesis imperfecta), overgrowth of gums (gingival fibromatosis), and slow tooth eruption, along with kidney-related problems (nephrocalcinosis) while maintaining normal calcium levels.
- - This syndrome is inherited in an autosomal recessive manner due to mutations in the FAM20A gene found on chromosome 17q24.2.
- - The report aims to detail a specific case of this syndrome, highlighting its unique characteristics and potential management strategies.
Article Abstract
Enamel renal gingival syndrome is a rare clinical condition characterized by the presence of amelogenesis imperfecta hypoplastic type, gingival fibromatosis and delayed tooth eruption, in addition to nephrocalcinosis with normal blood calcium levels. It is inherited as an autosomal recessive trait caused by mutations in the FAM20A gene located on chromosome 17q24.2. The purpose of this report is to describe a case of enamel renal gingival syndrome and discuss its distinct features and management.
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