Objective: To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity.
Methods: Systematic ultrasound examination was carried out for the fetus, and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed. The fetus and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Candidate variants were verified by Sanger sequencing.
Results: Fetal ultrasound has indicated micrognathia. The first fetus was found to have micrognathia by prenatal ultrasonography and have featured macrosomia and dyspnea due to with tongue retraction, high palatal arch and small mandibular deformity. WES revealed that the fetus has a harbored a c.3G>C (p.Met1?) variant of the COL2A1 gene, which was inherited from the father who had myopia and retinal detachment.
Conclusion: Stickler syndrome is mainly characterized prenatally by micrognathia, in addition with a variety of postnatal anomalies. The c.3G>C (p.Met1?) variant probably underlay the Stickler syndrome in this pedigree.