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01.03.2009 | Short Report

Infantile systemic hyalinosis presenting as intractable infantile diarrhea

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2009

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Abstract

Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.

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Titel: Infantile systemic hyalinosis presenting as intractable infantile diarrhea
Publikationsdatum: 01.03.2009
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2009
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0760-8

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Infantile systemic hyalinosis presenting as intractable infantile diarrhea

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Neuer Typ-1-Diabetes bei Kindern am Wochenende eher übersehen

Neue Studienergebnisse zur Myopiekontrolle mit Atropin

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