Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

OBJECTIVES

We present prenatal diagnosis of Geleophysic dysplasia (GD) at 22 weeks gestation with prenatal ultrasound findings, molecular genetic analysis and postmortem examination.

CASE REPORT: A 27-year-old primigravida was referred at 22 + 4 weeks gestation for detailed anomaly scanning due to routine ultrasound detection of short limbs. Chorionic villus sampling followed by family-based whole-exome sequencing identified two missense ADAMTSL2 variants, both classified as variants of uncertain significance. Detailed ultrasound screening showed short limbs, small hands and feet, typical facial appearance, cardiac and pulmonary anomalies. The association of phenotype and genotype support the diagnosis of GD. Postmortem examination confirmed the prenatal ultrasound findings and the diagnosis of GD.

CONCLUSION

Two missense ADAMTSL2 variants in this case may add new evidence to the molecular diagnosis of GD. Prenatal ultrasound assessment of the fetal phenotype helps us to better interpret fetal genotype, and find the potential causative variants.