ArticleInternational journal of general medicine2013
Neurological manifestations in children with Sanjad-Sakati syndrome.
Article in International journal of general medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati syndrome: an international rare disease registry study.The Journal of clinical endocrinology and metabolism · 2026Article
- Sanjad-Sakati Syndrome in Jordan: Clinical Features, Comorbidities, and Mortality Rate.Avicenna journal of medicine · 2026Article
- Hypercalciuria in Sanjad-Sakati Syndrome: A Retrospective Evaluation of Kidney Involvement Indicators.Cureus · 2026Article
- Sanjad-Sakati syndrome: integrated emergency care, long-term management, and expert perspectives-a narrative review.Frontiers in pediatrics · 2026Review
- Types 1 diabetes mellitus and Graves' disease in Sanjad-Sakati syndrome: a case report in Saudi Arabia.Frontiers in endocrinology · 2026Article
- Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.Sleep & breathing = Schlaf & Atmung · 2022Article
- Oral Facial Manifestations of Sanjad-Sakati Syndrome: A Literature Review.Children (Basel, Switzerland) · 2022Review
- Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.Frontiers in pediatrics · 2022Article
- Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution.SAGE open medical case reports · 2021Article
- Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.Molecular syndromology · 2017Article
- Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.Jornal de pediatriaArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSanjad-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.
objectiveThe 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.
methodsThis 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.
resultsAll 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.
conclusionPatients with SSS display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, intracranial calcification, and epilepsy.
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