From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature

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This report describes a young girl first diagnosed with growth hormone deficiency whose unusual clinical course led to a diagnosis of Kleefstra-2 syndrome caused by KMT2C variants. The case highlights the need to consider rare epigenetic neurodevelopmental disorders when short stature or poor growth hormone response appears with developmental delay or autism features.

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