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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117669PMC

Publication Analysis

Top Keywords

sanjad-sakati syndrome
8
ophthalmic findings
8
ocular associations
4
associations sanjad-sakati
4
syndrome case
4
case report
4
report oman
4
oman sanjad-sakati
4
syndrome sss
4
sss online
4

Similar Publications

Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.

Childs Nerv Syst

November 2024

Department of Neurosurgery, King Saud Medical City, C1 Riyadh Health Cluster, Riyadh, Saudi Arabia.

Article Synopsis
  • Sanjad Sakati syndrome (SSS) is a rare genetic disorder found mostly in the Arab population, leading to issues like hypothyroidism, growth problems, and physical abnormalities.
  • Patients can face additional complications, including metabolic and septic issues, but hydrocephalus has not been previously reported in literature.
  • This case report details the first known instance of SSS presenting with hydrocephalus, highlighting the treatment approach and ways to manage complications during the hospital stay.
View Article and Find Full Text PDF

Sanjad-Sakati Syndrome Revealed by Hypocalcemic Convulsions.

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 PDF

Recombinant PTH Infusion in a Child With Sanjad-Sakati Syndrome Refractory to Conventional Therapy.

JCEM 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 PDF

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!