BRCA1 and microcephaly: While some, but not all, of the reported individuals affected by bi-allelic BRCA1 PGVs have developmental abnormalities, such as microcephaly and intrauterine growth retardation (IUGR), which are also commonly found associated with classical FA, other FA-typical clinical findings, such as radial ray abnormalities, are not a frequent feature of the FA-like presentation of bi-allelic BRCA1 PGVs (Figure 1).