Patients with familial occurrence of short stature related to being born small for gestational age who have high IGF-I should be checked for abnormalities of IGF1R. A recent study has suggested a clinical score for selecting patients for genetic testing of IGF1R defects, and indicated that testing should be carried out for children born small for gestational age, with low birth weight and/or length, and who remained short, had microcephaly and had IGF-I SDS >0 at presentation (47). The gene discussed is IGF1R; the disease is microcephaly.