Detection of Spondyloepiphyseal Dysplasia Phenotype with CHST3 Mutation in an Asian Indian Family and Outcomes of Index and Subsequent Pregnancy

Abstract

CHST3-related skeletal dysplasia is an autosomal recessive disorder with a prenatal onset. Variations in the CHST3 gene are associated with spondyloepiphyseal dysplasia with short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; postnatal limitation of range of motion of large joints; and progressive kyphosis, occasional scoliosis and minor heart valve dysplasia. The identification of pathogenic variants in the family is helpful for carrier and prenatal testing. We describe the prenatal identification of spondyloepiphyseal dysplasia with CHST3 mutation in the index pregnancy of an Asian Indian woman and the outcome of the subsequent pregnancy.

Keywords

spondyloepiphyseal dysplasia - CHST3 mutation - prenatal diagnosis - pregnancy - fetus

Data Availability Statement

The data pertaining to this case can be shared on reasonable request and for reasonable purposes.

Patient Consent Statement

The patient provided informed consent for the anonymised use of images and case descriptors.

Authors' Contributions

S.G. performed the ultrasound and X-ray fetogram of the index pregnancy, clinical counselling for the parents, the ultrasound assessments of the subsequent pregnancy and wrote the manuscript. O.P.G. and N.K.J. provided the obstetric care and management for the patient, clinical counselling for the parents and reviewed the manuscript. G.M.T. performed the first and second trimester ultrasound assessments of the index pregnancy and reviewed the manuscript. S.C. and S.K. were involved with the genetic testing protocols and genetic counselling and reviewed the manuscript.

Publication History

Article published online:
20 June 2024

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