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Histiocytoid Cardiomyopathy
Foamy Myocardial Transformation of Infancy

Presentation

Jaw & Teeth

  • Macroglossia

    Esordio primi mesi MUSCOLO SCHELETRICO MARCATA CARDIOMEGALIA CARDIOMIOPATIA INSUFFICIENZA CARDIACA DEBOLEZZA MUSCOLARE PROGRESSIVA IPOTONIA/“FLOPPY BABY” RITARDO MOTORIO POLMONI INFEZIONI RESPIRATORIE INSUFFICIENZA CARDIO-RESPIRATORIA GASTROINTESTINALE MACROGLOSSIA [documen.site]

Workup

Serum

  • Neutropenia

    GENE CoQ 9 SINDROME DI BARTH I:1 II:1 II:2 III:1 III:2 II:3 I:2 II:4 II:5 III:4 III:5 III:3 IV: 1 IV: 2 Am J Hum Genet. 1 997, 61 : 862- 7 II:6 IV: 3 X-LINKED II:7 III:6 IV: 4 III:7 IV: 5 IV: 6 CARDIOMIOPATIA INFANTILE con mitocondri abnormi MIOPATIA NEUTROPENIA [documen.site]

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