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In family 1, c.3364G\u00a0&gt;\u00a0T, p.(Gly1122Cys) was found in the proband and co\u2010segregated perfectly with the phenotype in three generations. In family 2, a de novo variant c.3530G\u00a0&gt;\u00a0A, p.(Arg1177His) was detected. Both variants were rare, not present in the GnomAD database. Three individuals carrying <jats:italic>IGF1R<\/jats:italic> mutations have received rhGH treatment. The average gain in height SDS during treatment was 0.42 (range: 0.26\u20100.60) and 0.64 (range: 0.32\u20100.86) after 1 and 2\u00a0years of treatment, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study presents two heterozygous <jats:italic>IGF1R<\/jats:italic> mutations causing pre\u2010 and postnatal growth failure and microcephaly and also indicates that individuals with heterozygous <jats:italic>IGF1R<\/jats:italic> mutations can respond to rhGH treatment. The findings highlight that sequencing of the <jats:italic>IGF1R<\/jats:italic> should be considered in children with microcephaly and short stature due to pre\u2010 and postnatal growth failure.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.15218","type":"journal-article","created":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T02:59:42Z","timestamp":1581303582000},"page":"2067-2074","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pre\u2010 and postnatal growth failure with microcephaly due to two novel heterozygous <i>IGF1R<\/i> mutations and response to growth hormone treatment"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6907-1072","authenticated-orcid":false,"given":"Alexandra","family":"Gkourogianni","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology Department of Women\u2019s and Children\u2019s Health Karolinska Institutet and 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