Goldberg–Shprintzen syndrome—A rare case from India

Abstract

AbstractGoldberg–Shprintzen Syndrome (GOSHS, OMIM# 182212) is a rare autosomal dominant disorder with the characteristic features of craniosynostosis, developmental delays, intellectual disability, hypotonia, joint laxity, respiratory dysfunction, cardiovascular abnormalities, and abdominal hernias. Here we presented a rare case of 5‐years old male child with facial dysmorphism, global developmental delay, microcephaly, hypotonia, respiratory infection, breathing abnormalities, hematochezia, and meconium ileus. Whole exome sequencing revealed a novel homozygous deletion mutation in kinesin family binding protein (KIFBP) gene, NM_015634.4:c.1151del (p.Leu384Ter), which confirmed the molecular diagnosis of GOSHS.