amelogenesis imperfecta—1G

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amelogenesis imperfecta—1G2016-11-08T12:48:14+00:00

amelogenesis imperfecta—1G 

DENTISTRY

Definition Amelogenesis imperfecta—1G is an über rare condition (OMIM:204690) characterised by absent enamel, nephrocalcinosis, and apparently normal calcium metabolism. Other features include lifelong nocturnal enuresis, progressive punctate nephrocalcinosis and decreased calcium and phosphate excretion at rest and after acute loading.

Comment The syndrome is accompanied by increased serum osteocalcin and decreased urinary delta-carboxyglutamic acid, which were variously attributed to a defect of vitamin K-dependent calcium binding proteins or secondary changes.

The causative genetic defect is unknown 

Synonyms Amelogenesis imperfecta and gingival fibromatosis syndrome, amelogenesis imperfecta—hypoplastic—with nephrocalcinosis, enamel-renal-gingival syndrome, enamel renal syndrome 

Reference http://www.omim.org/entry/204690

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