Goltz syndrome and PORCN mosaicism

G oltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. G oltz syndrome is an X‐linked disorder due to mutations in PORCN , with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with G oltz syndrome with low‐level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dup A ; p.Asn320 G lufs X 99).