Familial Campomelic Dysplasia due to SOX9 Mosaicism and In Vitro Fertilization with Preimplantation Genetic Testing
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Description
Campomelic dysplasia (CD) is a rare, skeletal dysplasia that is often lethal. CD is characterized by bowing, shortening of the long bones, distinctive facies, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise. CD is an autosomal dominant disorder caused by heterozygous SOX9 pathogenic variants that are typically de novo. This case report describes a fetus affected with familial CD, inherited from a mother with confirmed SOX9 somatic mosaicism. The couple then pursued IVF with preimplantation genetic testing for their future pregnancy. An unaffected embryo was transferred, resulting in a healthy pregnancy. There is limited literature on familial CD due to SOX9 mosaicism and preimplantation genetic testing. We explore the implications of mosaicism, as well as the role of genetic and reproductive technologies in mitigating recurrence risk.
Publication Date
5-9-2025
Disciplines
Obstetrics and Gynecology
Recommended Citation
Kokoruda S, Romero V, Cordoba M, Zolynsky R. Familial campomelic dysplasia due to SOX9 mosaicism and in vitro fertilization with preimplantation genetic testing. Presented at: Research Day Corewell Health West; 2025 May 9; Grand Rapids, MI.
Comments
2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1841