Crk haploinsufficiency is associated with intrauterine growth retardation and severe postnatal growth failure

Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signaling in the patients’ peripheral blood mononuclear cells. The 2 children were treated with rhGH with a partial response in patient 1 and catch-up growth in patient 2, encouraging the use of rhGH to improve adult height in this condition.