Sanjad Sakati Syndrome: Case reports from Egypt

Abstract

Background: Sanjad Sakati Syndrome (SSS) is a rare autosomal recessive congenital disorder. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, dysmorphic features, as well as mild to severe mental retardation. The prevalence of this syndrome is not known. Reported patients were almost exclusively from the Arabian Peninsula. The syndrome has equal distribution for both sexes and has severe and often fatal consequences. Although some of the features seen in SSS resemble DiGeorge Syndrome, Kenny-Caffey Syndrome and familial Hypoparathyroidism, lack of association with normal intelligence, cardiac lesion, lymphopenia or skeletal abnormalities makes it a distinct entity. SSS is caused by mutations in the gene-encoding tubulin-specific chaperone E (TBCE; 604934), located on chromosome 1q42.3. SSS is listed in Online Mendelian Inheritance in Man [OMIM] #241410. We report on three Egyptian cases of Sanjad-Sakati Syndrome, one case being confirmed by molecular diagnosis. Cases: They have typical dysmorphic facial features comprised of a narrow face, deep-set eyes, a beaked nose, large floppy ears, a thin upper lip and micrognathia. The three cases showed growth retardation of variable degrees. Cardiac examination was normal in all cases. Laboratory results showed low total calcium, low ionized calcium, high serum phosphorous, normal alkaline phosphatase level, and low or normal serum parathyroid hormone which are essential for diagnosing hypoparathyroidism. Conclusion: This diagnosis allowed for proper treatment of the patients, prevented associated co-morbidities, provided a genetic counseling to their families, and enriched the genetic data concerning this syndrome on the Egyptian population being reported for the first time.

Keywords

• Sanjad-Sakati Syndrome
• Hypoparathyroidism-retardation-dysmorphism
• TBCE protein
• Congenital hypoparathyroidism