Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C > T p.(Arg336Ter) and NM_000751.2:c.973_975delGTG p.(Val325del), and measurement of the facial angle for determining micrognathia by prenatal diagnosis in the first trimester of pregnancy for a Lethal multiple pterygium syndrome case. In conclusion, this report complements the spectrum of genetic variants and phenotype of Lethal multiple pterygium syndrome and provides reliable recommendation for the counseling of future pregnancies in families with the disease.

Automated summary

This report presents two novel mutations of the CHRND gene, providing important insights into the genetic and phenotypic heterogeneity of Lethal multiple pterygium syndrome. It also demonstrates the use of prenatal diagnosis to measure the facial angle for determining micrognathia in the first trimester of pregnancy. Overall, this study expands our understanding of the disease and offers valuable recommendations for future pregnancies in affected families.