Abstract
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM: 272460) is an autosomal recessive disorder characterized by block vertebrae, carpal-tarsal synostosis and disproportionate short stature. Some clinical characteristics of SCT are dysmorphic facial traits, cleft palate, hypoplastic tooth enamel, brachydactyly, clinodactyly, limited joint movement and mixed hearing loss. Biallelic nonsense and frameshift pathogenic variantions in FLNB gene are associated with SCT. An 8 -year -old patient was referred with a suspicion of skeletal dysplasia. He had short stature, scoliosis, carpal-tarsal synostosis and ventricular septal defect (VSD). Clinical exome sequence (CES) analysis was performed and a novel homozygous frameshift variation in FLNB (c.219_222dup p.Met75Profs*17) was detected. No other pathogenic variations in genes related to VSD was found. To the best of our knowledge, this is the first case of SCT reported with VSD and pelvicaliectasia.The aim of this study is to discuss the novel clinical findings in order to contribute to genotype-phenotype association.
Recommended Citation
Dirimtekin, Esra; Arslan Ateş, Esra; Polat, Hamza; Almus, Eda; and Geckinli, Bilgen B.
(2025)
"The First Turkish Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect and Pelvicaliectasia Caused by a Novel Homozygous Frameshift Variation in FLNB,"
Journal of Pediatric Genetics: Vol. 14:
Iss.
1, Article 5.
Available at:
https://jpg.researchcommons.org/journal/vol14/iss1/5