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Camuratiho-Engelmannov syndróm
Subject h. Camuratiho-Engelmannov syndróm Subject h. Camurati-Engelmann Syndrome Entry terms dysplázia diafýzová progresívna
Engelmannova choroba
dysplasia progressiva diaphysaria
osteopathia hyperostotica multiplex infantilisEnglish X references Diaphyseal Dysplasia, Progressive
Engelmann's DiseaseScope note in English An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder. 
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Number of the records: 1