Literature DB >> 32714707

Endocrinological Manifestations of Sanjad-Sakati Syndrome.

Masharib Bashar1, Muhammad Taimur2, Fnu Amreek3, Khalid A Sayeed4, Amber Tahir2.   

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.
Copyright © 2020, Bashar et al.

Entities:  

Keywords:  autosomal recessive; endocrinology; hypoparathyroidism; hypoparathyroidism-retardation-dysmorphism syndrome; pediatric rare diseases; sanjad-sakati syndrome

Year:  2020        PMID： 32714707      PMCID： PMC7377659          DOI： 10.7759/cureus.8770

Source DB:  PubMed          Journal:  Cureus        ISSN： 2168-8184


  14 in total

1.  Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

Review 2.  Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

Authors:  A Swillen; A Vogels; K Devriendt; J P Fryns
Journal:  Am J Med Genet       Date:  2000

3.  Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features.

Authors:  A T Soliman; A Darwish; I alSalmi; M Asfour
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

4.  Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC).

Authors:  Naif Alghasab; A Bruce Janati; Aslam Khan
Journal:  Can J Neurol Sci       Date:  2012-11       Impact factor: 2.104

5.  Sanjad-Sakati Syndrome in Sudanese children.

Authors:  Wiam A Arabi; Areej A Basheer; Mohamed A Abdullah
Journal:  Sudan J Paediatr       Date:  2011

6.  Sanjad-Sakati Syndrome in Omani children.

Authors:  Bushra Rafique; Saif Al-Yaarubi
Journal:  Oman Med J       Date:  2010-07

7.  Sanjad Sakati syndrome: a case series from Jordan.

Authors:  J Albaramki; K Akl; A Al-Muhtaseb; M Al-Shboul; T Mahmoud; M El-Khateeb; H Hamamy
Journal:  East Mediterr Health J       Date:  2012-05       Impact factor: 1.628

8.  Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.

Authors:  Raja Padidela; Dan Kelberman; Martin Press; M Al-Khawari; Peter C Hindmarsh; Mehul T Dattani
Journal:  J Clin Endocrinol Metab       Date:  2009-06-02       Impact factor: 5.958

9.  Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions.

Authors:  Eli Hershkovitz; Ilia Rozin; Yehuda Limony; Haim Golan; Nurit Hadad; Rafael Gorodischer; Rachel Levy
Journal:  Pediatr Res       Date:  2007-10       Impact factor: 3.756

10.  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.

Authors:  R Parvari; E Hershkovitz; A Kanis; R Gorodischer; S Shalitin; V C Sheffield; R Carmi
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
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  2 in total

1.  A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?

Authors:  Mohammad A Alomar; Mohammad A Alghafees; Raouf M Seyam; Abdulaziz S Aljurayyad; Reema S Aldhalaan; Khalid M Alshuwaier; Yasser M Alkharashi; Abdulrahman L Albassam
Journal:  Cureus       Date:  2022-03-10

Review 2.  Oral Facial Manifestations of Sanjad-Sakati Syndrome: A Literature Review.

Authors:  Sara Alghamdi
Journal:  Children (Basel)       Date:  2022-03-22
  2 in total

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