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Patients have clinical and biochemical characteristics of GH insensitivity dwarfism and combined phenotype of GH insensitivity, immunodeficiency consistent with the presence of a defect in the JAK/STAT system, dysmorphic features, eczema, lymphocytic interstitial pneumonitis and modestly decreased circulating T cells.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
- Nanism due to growth hormone resistance, ORPHANET, France
- Short stature, eMedicine, USA
- Laron syndrome, eMedicine, USA