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Sanjad-Sakati Syndrome in Omani children.

ABSTRACT: Sanjad Sakati Syndrome is an Autosomal Recessive disorder found exclusively in people of Arabian origin. It was first reported from the Kingdom of Saudi Arabia in 1988. This is a report of a family with this rare disease in Oman. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial features. Supportive treatment in the form of vitamin D and growth hormone is often offered to these children.

SUBMITTER: Rafique B

PROVIDER: S-EPMC3191633 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Sanjad-Sakati Syndrome in Omani children.

Rafique Bushra B Al-Yaarubi Saif S

Oman medical journal 20100701 3

Sanjad Sakati Syndrome is an Autosomal Recessive disorder found exclusively in people of Arabian origin. It was first reported from the Kingdom of Saudi Arabia in 1988. This is a report of a family with this rare disease in Oman. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial features. Supportive treatment in the form of vitamin D and growth hormone is often offered to these children. ...[more]

PMID: 22043344

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Endocrinological Manifestations of Sanjad-Sakati Syndrome.

Project description:Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is a very rare genetic disorder with an autosomal recessive mode of inheritance, mostly seen in children of Middle Eastern origin. Hypoparathyroidism remains the most characteristic endocrinological feature of SSS; but not the only one. This review outlines and elucidates other endocrinological manifestations that may be seen with this syndrome.

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Neurological manifestations in children with Sanjad-Sakati syndrome.

Project description:BACKGROUND: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features. OBJECTIVE: The objective of this study was to clarify the clinical and neurological features of SSS. PATIENTS: Twenty-four patients were included in the study. They were seen at two hospitals in Kuwait. METHODS: This was a retrospective study of patients with SSS who attended the pediatric endocrinology, genetic, and neurology clinics in the Aladan and Alfarawanya hospitals in Kuwait from September 2007 to September 2012. Clinical and radiological data were obtained from each patient's medical records. RESULTS: All 24 patients had the characteristic dysmorphic features and laboratory findings of SSS. Consanguinity was reported in 75% of parents. Neurological manifestations in the form of microcephaly, developmental delay, mental retardation, and seizures were reported in all patients. Computerized tomography scans and/or magnetic resonance imaging showed evidence of intracranial calcifications in 29.2% of patients. Two patients showed a thin corpus callosum, and one patient showed intraventricular hemorrhaging. CONCLUSION: Patients with SSS display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, intracranial calcification, and epilepsy.

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Sanjad-sakati syndrome dental management: a case report.

Project description:Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child's genetic disorder, nutritional needs, and dental health education to improve the life style of such children.

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Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report.

Project description: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. It is usually caused by genetic mutations of the tubulin-folding cofactor E (TBCE; 604934), which is located on the 1q42.3 chromosome. This case was confirmed by a genetic study which revealed a pathogenic variant in the homozygous state in the TBCE gene. Typically, the physical features of this case involve microcephaly, long and narrow face, beaked nose, deep-set eyes, large ears, thin lips, long philtrum, micrognathia, and small hands and feet. Although Sanjad-Sakati syndrome is an incurable disease, early diagnosis helps with appropriate palliative treatment of the patient, reducing other associated metabolic and electrolyte disturbances, and allows for a genetic study and counseling of the family, especially in our society due to the high rate of consanguinity.

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Status epilepticus in a child with Sanjad Sakati syndrome.

Project description:We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely.

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Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

Project description: Not available

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Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening.

Project description:Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, growth retardation and dysmorphism. Thyroid status of patients with SSS has not been widely explored. Therefore, we aimed to review the occurrence of autoimmune thyroiditis, which is commonly associated with other genetic disorders, in SSS. A retrospective hospital based study was conducted at King Khalid University Hospital, Riyadh, Saudi Arabia, to determine the thyroid status of patients with SSS attending the hospital between 1990 and 2015. Data were extracted from the medical records of patients diagnosed with Sanjad-Sakati syndrome with special emphasis on the clinical features, thyroid function, thyroid antibodies, molecular studies and other relevant investigations. A total of 18 patients with a diagnosis of Sanjad-Sakati Syndrome based on typical clinical features and low parathyroid hormone, were evaluated. Furthermore, molecular study was available on 15 patients; all had homozygous deletion of 12 bp (155-166) in exon 3 of the TCBE gene. In 6 patients the thyroid functions were abnormal (one patient with overt hypothyroidism and five patients with sub clinical hypothyroidism). Thyroid autoantibodies were positive in 4 patients. In conclusion, one third of this cohort with SSS had abnormal thyroid function test attributed mainly to autoimmune thyroiditis. Therefore, we recommend routine screening of patients with SSS for thyroid function and autoimmune antibodies during follow up.

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