Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS.
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Childs Nerv Syst
November 2024
Department of Neurosurgery, King Saud Medical City, C1 Riyadh Health Cluster, Riyadh, Saudi Arabia.
Cureus
August 2024
Department of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, MAR.
Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by facial dysmorphia, growth retardation, and congenital hypoparathyroidism. Epidemiologically, this syndrome is primarily observed in children of Arabian descent. However, cases have also been reported in non-Arab countries.
View Article and Find Full Text PDFJCEM Case Rep
April 2024
Division of Pediatric Endocrinology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia, 11421- P. O. Box 800.
Hypoparathyroidism is the most common endocrinological feature in children with Sanjad-Sakati syndrome. Treatment includes active vitamin D and calcium supplementation. Here, we report a case of a newborn with Sanjad-Sakati syndrome who had severe hypocalcemia since birth who responded to PTH subcutaneous pump infusion.
View Article and Find Full Text PDFIran J Allergy Asthma Immunol
February 2024
Immunobiology Center of Pasteur Medical Laboratory, Ahvaz, Iran.
Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these patients may affect the nature and function of the immune system. Thus, in this study, cell count and phagocytotic function of neutrophils were evaluated which may be influenced by changes in the hormonal rate and growth factors.
View Article and Find Full Text PDFOman Med J
January 2024
Department of Pediatrics, Fallujah Teaching Hospital for Women and Children, Fallujah, Iraq.
Sanjad-Sakati syndrome is a rare autosomal recessive genetic disorder that presents solely in Arabian people. Our case was reported from the Fallujah Teaching Hospital for Women and Children in Fallujah, Iraq. This syndrome is associated with hypoparathyroidism, growth retardation, atypical facial appearance, and a variable degree of mental retardation.
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