This report describes two patients with INPPL1- related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high-lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal management. Some frameshift variants in INPLL1 gene are uniquely observed in lethal cases; however, more patients are needed to confirm the correlation.
Keywords: INPPL1 gene‐related phenotype; Schneckenbecken dysplasia; opsismodysplasia; prenatal whole exome sequencing; skeletal dysplasia.
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.