Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

Abstract

Abstract 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
• opsismodysplasia
• prenatal whole exome sequencing
• Schneckenbecken dysplasia
• skeletal dysplasia