For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
16
views
21
references
 Top references
cited by
3
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      441
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Endocrinological Manifestations of Sanjad-Sakati Syndrome

      review-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Most cited references21

          • Record: found
          • Abstract: found
          • Article: not found

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

          Andrew R. C. Milner, N Sakati, S. Sanjad … (1991)
          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.
          Article 0 comments Cited 33 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

            K Devriendt, A G C Vogels, A Swillen … (1999)
            In this contribution we review current knowledge of the chromosome 22q11 deletion syndrome, with special emphasis on the clinical characteristics, including physical features, cognitive-behavioral spectrum, and psychiatric complications.
            Article 0 comments Cited 22 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              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.

              R Carmi, R Gorodischer, R Parvari … (1998)
              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.
              Article 0 comments Cited 16 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 22 June 2020
                Publication date (Electronic, collection): June 2020
                Volume: 12
                Issue: 6
                Electronic Location Identifier: e8770
                Affiliations
                [1 ] Internal Medicine, Dr. Ruth KM Pfau Civil Hospital, Karachi, PAK
                [2 ] Internal Medicine, Dow University of Health Sciences, Karachi, PAK
                [3 ] Surgery, New York University School of Medicine, New York, USA
                [4 ] Internal Medicine, Liaquat College of Medicine and Dentistry, Darul Sehat Hospital, Karachi, PAK
                Author notes
                Article
                DOI: 10.7759/cureus.8770
                PMC ID: 7377659
                PubMed ID: 32714707
                SO-VID: 750758e6-881c-4f55-b77b-68746b305d1d
                Copyright © Copyright © 2020, Bashar et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 7 June 2020
                Date accepted : 22 June 2020
                Categories
                Subject: Endocrinology/Diabetes/Metabolism
                Subject: Genetics
                Subject: Pediatrics

                Keywords: sanjad-sakati syndrome,hypoparathyroidism-retardation-dysmorphism syndrome,hypoparathyroidism,pediatric rare diseases,autosomal recessive,endocrinology
                Data availability:
                Keywords: sanjad-sakati syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, hypoparathyroidism, pediatric rare diseases, autosomal recessive, endocrinology

                Comments

                Comment on this article

                scite_

                Similar content441

                See all similar

                Cited by3

                See all cited by

                Most referenced authors141

                See all reference authors