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      Neurological manifestations in children with Sanjad–Sakati syndrome

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          Abstract

          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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          Most cited references23

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          A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

          Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
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            Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

            The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers-GGAA6F06, D1S2678, and D1S179-in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an approximately 1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42-43.
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              The dentofacial features of Sanjad-Sakati syndrome: a case report.

              Sanjad-Sakati syndrome is an autosomal recessive disorder that was first reported by Sanjad et al. in 1988. It is characterized by congenital hypoparathyroidism, severe growth failure and dysmorphic features. The clinical features include deep set eyes, microcephaly, thin lips, depressed nasal bridge with beaked nose, external ear anomalies and learning difficulties. This report presents the case of a 4-year-old patient who was referred to our dental clinic because of pain in her mouth and poor dental health. Oral findings included micrognathic mandible and maxilla, microdontia, enamel hypoplasia as well as severely decayed teeth. Treatment was carried out under general anaesthesia to extract the most severely affected teeth and restore those which could be conserved. It was concluded that these patients have special dental needs; early diagnosis of the affected children is therefore important in order to commence preventive dental therapy and carry out appropriate dental treatment at the optimum time.
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                Author and article information

                Journal
                Int J Gen Med
                Int J Gen Med
                International Journal of General Medicine
                Dove Medical Press
                1178-7074
                2013
                27 May 2013
                : 6
                : 393-398
                Affiliations
                [1 ]Department of Pediatrics, Faculty of Medicine, Elmansoura University, Elmansoura, Egypt;
                [2 ]Department of Pediatrics, Faculty of Medicine, Benha University, Benha, Egypt
                Author notes
                Correspondence: Ahmed Farag Elhassanien, Faculty of Medicine, Elmansoura University, Mansoura, Egypt, Tel +20 50 233 9981, Email ahmedfaraj66@ 123456yahoo.com
                Article
                ijgm-6-393
                10.2147/IJGM.S40930
                3686470
                23807856
                e642fb55-4c65-4411-9636-470599cd2e14
                © 2013 Elhassanien and Alghiaty, publisher and licensee Dove Medical Press Ltd

                This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.

                Categories
                Original Research

                Medicine
                sanjad–sakati syndrome,microcephaly,neurological manifestations,children,mental retardation

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