Özet:

The purpose of this case study review is to evaluate Squamous Suture synostosis in Raine syndrome. Raine syndrome is characterized by dysmorphic features including exophthalmos, microcephaly, gum hypertrophy, low-set ears, midface hypoplasia, and osteosclerosis. RS is closely associated with squamous suture synostosis, one of the lateral minor skull sutures separating the parietal and squamous temporal bones. The study examined a three-year-old Saudi male born to healthy parents and a known case of Raine syndrome, craniosynostosis, degenerative myopia, and cataract. The Computed tomography (CT) scan results showed that the patient had metopic craniosynostosis with squamosal suture craniosynostosis and high intracranial pressure (ICP). The findings show that the association between Squamous Suture synostosis and Raine syndrome is seen in osteoporosis-related to deficiency of carbonic anhydrase II. However, in Raine syndrome disorder, the calcifications are seen after one year of age in many cases. Thus, it can be noted that Raine syndrome is inherited as an autosomal recessive in FAM20C mutation and is most identified among children.

Anahtar Kelimeler: