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Article

Medulloblastoma in a child with osteoma cutis - a rare association due to loss of GNAS expression.

Journal of pediatric endocrinology & metabolism : JPEM - 27 May 2024

Suntharesan Jananie, Lyulcheva-Bennett Ekaterina, Hart Rachel, Pizer Barry, Hayden James, Ramakrishnan Renuka

Abstract excerpt

OBJECTIVES: Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This...

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Identifiers

PMID: 38529810
DOI: 10.1515/jpem-2023-0533

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