46 results match your criteria Sanjad Sakati Syndrome

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Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.

Am J Med Genet A 2020 Oct 3. Epub 2020 Oct 3.

Department of Medical Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61896DOI Listing
October 2020

Endocrinological Manifestations of Sanjad-Sakati Syndrome.

Cureus 2020 Jun 22;12(6):e8770. Epub 2020 Jun 22.

Internal Medicine, Dow University of Health Sciences, Karachi, PAK.

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. Read More

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http://dx.doi.org/10.7759/cureus.8770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7377659PMC

Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.

Clin Dysmorphol 2020 Jan;29(1):46-48

Department of Pediatrics B.

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http://dx.doi.org/10.1097/MCD.0000000000000286DOI Listing
January 2020
4 Reads
0.416 Impact Factor

Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.

Arch Pediatr 2019 Feb 10;26(2):102-107. Epub 2019 Jan 10.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street ibn jazzar, 4000 Sousse, Tunisia.

Background And Objectives: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. Read More

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http://dx.doi.org/10.1016/j.arcped.2018.11.012DOI Listing
February 2019
15 Reads

Hypoparathyroidism in children: a study of eight cases.

Tunis Med 2018 Aug - Sep;96(8-9):472-476

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. Read More

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September 2019
70 Reads

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

J Pediatr (Rio J) 2020 Jan - Feb;96(1):60-65. Epub 2018 Aug 4.

Ahvaz Jundishapur University of Medical Sciences, Diabetes Research Center, Ahvaz, Iran; Ahvaz Jundishapur University of Medical Sciences, School of Medicine, Department of Medical Genetics, Ahvaz, Iran. Electronic address:

Objective: Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism-intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin.

Methods: In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00217557183045
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http://dx.doi.org/10.1016/j.jped.2018.07.005DOI Listing
September 2020
43 Reads

A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.

Am J Med Genet A 2018 08 28;176(8):1768-1772. Epub 2018 Jul 28.

Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California.

Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is a rare autosomal recessive disorder attributed to the mutations in the tubulin-specific chaperone E (TBCE) gene, which is vital for microtubule function during mitosis, organelle positioning, and neuronal cytokinesis. HRD is a congenital syndromic hypoparathyroidism associated with growth deficiency, microcephaly, intellectual disability, ocular anomalies, and facial dysmorphism. To our knowledge, there is only one published case of mild HRD-like syndrome with no identifiable genetic etiology. Read More

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http://doi.wiley.com/10.1002/ajmg.a.38851
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http://dx.doi.org/10.1002/ajmg.a.38851DOI Listing
August 2018
28 Reads

Sanjad-Sakati Syndrome: Oral Health Care.

Med Princ Pract 2018 13;27(3):293-296. Epub 2018 Mar 13.

University College London, London, United Kingdom.

Objectives: The aim of this report is to describe the orofacial manifestations and dental management of a girl with Sanjad-Sakati syndrome.

Clinical Presentation And Intervention: The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. Read More

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http://dx.doi.org/10.1159/000488352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062658PMC
November 2018
6 Reads

Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.

J Pediatr Endocrinol Metab 2018 Apr;31(5):581-584

Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation.

Case Presentation: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. Read More

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http://dx.doi.org/10.1515/jpem-2017-0317DOI Listing
April 2018
6 Reads

Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series.

Endocr Connect 2017 Nov;6(8):589-594

Royal Manchester Children's HospitalManchester, UK

Background: Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism.

Methods: We describe three children with hypoparathyroidism in whom intercurrent illnesses led to hypocalcaemia and escalation of treatment with alfacalcidol (1-hydroxycholecalciferol) and calcium supplements. Read More

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http://dx.doi.org/10.1530/EC-17-0234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633055PMC
November 2017
6 Reads

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

Sudan J Paediatr 2016 ;16(2):41-44

Department of pediatrics, College of Medicine , King Khalid University Hospital, King Saud University, Riyadh , Saudi Arabia.

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. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237833PMC
January 2016
21 Reads

Anesthetic management of a case of Sanjad-Sakati syndrome.

Saudi J Anaesth 2016 Oct-Dec;10(4):453-455

Department of Anesthesiology and Pain Medicine, King Fahd Medical City, Riyadh, Kingdom of Saudi Arabia.

Sanjad-Sakati syndrome is an autosomal recessive genetic disorder first described in Saudi Arabia. Anesthetic management of these patients is challenging due to airway difficulties, electrolyte imbalance, growth and mental retardation, and seizures. The anesthetic management of the syndrome is described in this case report. Read More

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http://dx.doi.org/10.4103/1658-354X.177321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5044735PMC
November 2016
5 Reads

[Kenny-Caffey syndrome and its related syndromes].

Nihon Rinsho 2015 Nov;73(11):1959-64

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. Read More

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November 2015
20 Reads

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.

Ann Saudi Med 2015 Mar-Apr;35(2):170-2

Ilham Ratbi, Département de Génétique Médicale,, Institut National d'Hygiène, 27, Avenue Ibn Batouta,, B.P. 769 Rabat - Morocco, T: (+212) 613 58 67 97, F: (+212) 537 77 20 67,

Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities. The prevalence of SSS is unknown. Read More

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http://www.annsaudimed.net/index.php/vol35/vol35iss2/783.htm
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http://dx.doi.org/10.5144/0256-4947.2015.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074128PMC
June 2016
21 Reads

Sanjad-Sakati syndrome in a Tunisian child.

Arch Pediatr 2015 Sep 29;22(9):951-5. Epub 2015 Jul 29.

Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.

Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy. SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in exon 3 of this gene. Read More

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http://dx.doi.org/10.1016/j.arcped.2015.06.003DOI Listing
September 2015
10 Reads

Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome.

Case Rep Pediatr 2014 9;2014:108051. Epub 2014 Nov 9.

King Faisal Specialist Hospital Research Centre, P.O. Box 280581, Riyadh 11392, Saudi Arabia.

Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. It was first reported in the Kingdom of Saudi Arabia in 1988 and confirmed by a definitive report in 1991. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low IQ, and atypical facial features. Read More

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http://dx.doi.org/10.1155/2014/108051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241564PMC
December 2014
3 Reads

New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.

Sultan Qaboos Univ Med J 2014 Aug 24;14(3):e401-4. Epub 2014 Jul 24.

Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.

Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117669PMC
August 2014
6 Reads

Hypoparathyroidism-retardation-dysmorphism syndrome.

Indian J Hum Genet 2013 Jul;19(3):363-5

Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.

Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome. Read More

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http://dx.doi.org/10.4103/0971-6866.120814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841568PMC
July 2013
3 Reads

Neurological manifestations in children with Sanjad-Sakati syndrome.

Int J Gen Med 2013 27;6:393-8. Epub 2013 May 27.

Department of Pediatrics, Faculty of Medicine, Elmansoura University, Elmansoura, Egypt;

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. Read More

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http://dx.doi.org/10.2147/IJGM.S40930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3686470PMC
July 2013
3 Reads

Sanjad-sakati syndrome dental management: a case report.

Case Rep Dent 2013 21;2013:184084. Epub 2013 Feb 21.

Pediatric Dentistry, Sharjah University City, P.O. Box 27272, Sharjah, UAE.

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. Read More

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http://dx.doi.org/10.1155/2013/184084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600134PMC
March 2013
14 Reads
3 Citations

Status epilepticus in a child with Sanjad Sakati syndrome.

BMJ Case Rep 2013 Feb 1;2013. Epub 2013 Feb 1.

Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

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. Read More

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http://dx.doi.org/10.1136/bcr-2012-007794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603786PMC
February 2013
8 Reads

Kenny-Caffey syndrome type 1 in an Egyptian girl.

Indian J Endocrinol Metab 2012 Sep;16(5):827-9

Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.

Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1. Read More

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http://dx.doi.org/10.4103/2230-8210.100645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475915PMC
September 2012
2 Reads

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

Can J Neurol Sci 2012 Nov;39(6):833-4

Qassim University, Buryidah.

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http://dx.doi.org/10.1017/s0317167100015705DOI Listing
November 2012
6 Reads
1.600 Impact Factor

Sanjad Sakati syndrome: a case series from Jordan.

East Mediterr Health J 2012 May;18(5):527-31

Department of Pediatrics, Jordan University Hospital, Amman, Jordan.

Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Read More

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http://dx.doi.org/10.26719/2012.18.5.527DOI Listing
May 2012
3 Reads

Genetics of hypoparathyroidism and pseudohypoparathyroidism.

Authors:
M L Brandi

J Endocrinol Invest 2011 Jul;34(7 Suppl):27-34

Unit of Bone and Mineral Metabolism, Department of Internal Medicine, University of Florence, Medical School, Viale Pieraccini, 6 - 50139 Florence, Italy.

Congenital hypoparathyroidism encompasses a series of disorders chracterized by the common biochimical feature of symptomatic hypocalcemia with concomitant hypophosphoremia. Clinical features differ among the various parathyroid-related hypocalcemic syndromes, as understandable on the basis of disorder-specific genetics. The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes. Read More

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Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases.

J Pediatr Endocrinol Metab 2011 ;24(7-8):543-8

Preimplantation Genetic Unit, Zohar PGD Lab, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.

Objective: To develop a reliable and accurate preimplantation genetic diagnosis (PGD) method in six families with endocrine diseases: persistent hyperinsulinemic hypoglycemia of infancy (PHHI), congenital adrenal hyperplasia (CAH) salt-wasting form, Sanjat-Sakati syndrome and multiple endocrine neoplasia 2A (MEN 2A).

Methods: For each disease a battery of at least four informative markers surrounding the tested gene were identified and for each family a protocol of multiplex fluorescent markers was developed and performed on single cells.

Results: PGD for PHHI was performed in three families. Read More

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http://dx.doi.org/10.1515/jpem.2011.262DOI Listing
October 2011
25 Reads

Sanjad-Sakati Syndrome in Sudanese children.

Sudan J Paediatr 2011 ;11(1):42-7

The Endocrine Division, Department of Paediatrics and Child Health , Faculty of Medicine, University of Khartoum and Soba University Hospital, Khartoum , Sudan.

We report on the first 4 cases (3 girls and one boy belonging to 4 families) of Sanjad-Sakati syndrome from Sudan. They presented within the first 2 months of life with repeated hypocalcaemic convulsions, severe growth retardation and dysmorphic features. They all had low parathyroid hormone levels. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949781PMC
August 2016
8 Reads

Sanjad-Sakati Syndrome in Omani children.

Oman Med J 2010 Jul;25(3):227-9

Department of Child Health, Sultan Qaboos University Hospital, Al Khod, Muscat, Sultanate of Oman.

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. Read More

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http://dx.doi.org/10.5001/omj.2010.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191633PMC
July 2010
1 Read

Sanjad-Sakati syndrome in a neonate.

Authors:
Kamalesh Pal

Indian Pediatr 2010 May;47(5):443-4

Department of Pediatric Surgery, Maternity and Childrens Hospital, AI Ahsa. Kingdom of Saudi Arabia.

Congenital hypoparathyroidism, growth retardation and dysmorphism is a rare autosomal recessive syndrome among Arab population commonly known as Sanjad-Sakati syndrome(SSS).Several metabolic and septic complications are known to manifest in the neonatal age. We describe the first report of morbid pathological fractures affecting a neonate with SSS. Read More

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http://dx.doi.org/10.1007/s13312-010-0066-6DOI Listing
May 2010
7 Reads

Case report: Sanjad--Sakati syndrome: dental findings and treatment.

Eur Arch Paediatr Dent 2010 Jun;11(3):151-4

Department of Paediatric Dentistry, The Maurice and Gabriela Goldschleger School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.

Case Report: A 12 year-old child was referred who needed dental treatment because of his oral and systemic condition. Radiographic findings showed agenesis of 12 permanent teeth (all canines and premolars). Read More

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June 2010
4 Reads

Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome.

J Pediatr Surg 2010 Feb;45(2):430-4

Division of Pediatric Surgery, Department of Surgery, College of Medicine, King Faisal University, King Fahad Hospital of the University, Al Khobar, Kingdom of Saudi Arabia.

Sanjad-Sakati syndrome is a rare autosomal recessive disorder mainly occurring in the Arab Peninsula. This condition is associated with metabolic and septic complications starting in the neonatal period. Chronic intestinal pseudoobstruction owing to visceral myopathy is a rare disabling condition. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2009.12.004DOI Listing
February 2010
3 Reads

The otolaryngologic features of Sanjad-Sakati syndrome.

Arch Otolaryngol Head Neck Surg 2009 Jul;135(7):714-5

Division of Otolaryngology-Head and Neck Surgery, The George Washington University, 2150 Pennsylvania Ave NW, Ste 6-301, Washington, DC 20036, USA.

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http://dx.doi.org/10.1001/archoto.2009.76DOI Listing
July 2009
9 Reads

Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.

East Mediterr Health J 2009 Mar-Apr;15(2):345-52

Kuwait Medical Genetic Centre, Adan Hospital, Ministry of Health, Kuwait.

We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). Read More

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August 2009
5 Reads

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.

J Clin Endocrinol Metab 2009 Aug 2;94(8):2686-91. Epub 2009 Jun 2.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College of London, Great Ormond Street Hospital for Children, 30 Guilford Street, London, UK.

Context: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities, is characterized by severe short stature, the etiology of which is unclear. Homozygous mutation of the tubulin cofactor E (TBCE) gene leading to loss of four amino acids (c.155-166del12; p. Read More

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2008-2788DOI Listing
August 2009
18 Reads

Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.

J AAPOS 2007 Jun 25;11(3):288-90. Epub 2007 Jan 25.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.(1,3) Nanophthalmos and corneal opacity have been documented in Kenny-Caffey syndrome patients,(4) but ocular disease has not been well-described in HRD. Read More

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http://dx.doi.org/10.1016/j.jaapos.2006.10.015DOI Listing
June 2007
2 Reads

Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation.

Exp Cell Res 2007 Feb 9;313(3):425-36. Epub 2006 Sep 9.

Unidad de Metabolómica, CICbioGUNE, Parque Tecnológico de Bizkaia, 48160-Derio, Spain.

Tubulin folding cofactors B (TBCB) and E (TBCE) are alpha-tubulin binding proteins that, together with Arl2 and cofactors D (TBCD), A (TBCA or p14) and C (TBCC), participate in tubulin biogenesis. TBCD and TBCE have also been implicated in microtubule dynamics through regulation of tubulin heterodimer dissociation. Understanding the in vivo function of these proteins will shed light on the Kenny-Caffey/Sanjad-Sakati syndrome, an important human disorder associated with TBCE. Read More

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http://dx.doi.org/10.1016/j.yexcr.2006.09.002DOI Listing
February 2007
2 Reads

Ophthalmic manifestations of Sanjad-Sakati syndrome.

Ophthalmic Genet 2006 Sep;27(3):83-7

Department of Ophthalmology, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia.

Background: Sanjad-Sakati syndrome (SSS) is a rare disorder characterized by hypoparathyroidism, growth and developmental delay, and dysmorphism. The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; hypoparathyroidism-mental retardation-dysmorphism syndrome, HRD) (OMIM 241410).

Patients: We included a total of 17 patients who were seen at two hospitals in Riyadh. Read More

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http://dx.doi.org/10.1080/13816810600862568DOI Listing
September 2006
5 Reads

Anesthesia management for the child with Sanjad-Sakati syndrome.

Paediatr Anaesth 2006 Nov;16(11):1189-92

Department of Anesthesia, Schneider Children's Medical Center of Israel, Tel Aviv, Israel.

Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection. It is mainly confined to children in the Middle-East countries. We report the anesthesia management of a 12-year-old boy with SSS for dental treatment, and discuss the anesthesia implications of this disorder. Read More

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http://dx.doi.org/10.1111/j.1460-9592.2006.01981.xDOI Listing
November 2006
15 Reads

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Am J Med Genet A 2006 Mar;140(6):611-7

Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.

Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears. This disorder has been mapped to the long arm of chromosome 1 (1q42-q43) and mutations in the gene coding for tubulin-specific chaperone E (TBCE) have been identified as the cause of the disease. Mutations in the same gene were also reported in patients with AR Kenny-Caffey syndrome (KCS). Read More

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http://dx.doi.org/10.1002/ajmg.a.31122DOI Listing
March 2006
32 Reads
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Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.

Am J Med Genet A 2005 Jun;135(2):200-1

Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.

We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from Saudi Arabia. Read More

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http://dx.doi.org/10.1002/ajmg.a.30666DOI Listing
June 2005
6 Reads

Genetic diversity among the Arabs.

Community Genet 2005 ;8(1):21-6

Section of Clinical Genetics and Dysmorphology, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

The Arabs in general are genetically diverse. Major factors that contributed to their diversity include the migrations of Semitic tribes from the Arabian Peninsula, the Islamic expansion in the 7th century AD, the Crusade wars and the recent migration dynamics. These events have resulted in the admixture of the original Arabs with other populations extending from east and south Asia to Europe and Africa. Read More

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http://dx.doi.org/10.1159/000083333DOI Listing
June 2005
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Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.

Prenat Diagn 2004 Apr;24(4):302-6

King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation. In Saudi Arabia, the disease is caused by a deletion of 12 bp (155-166nt) in the tubulin-specific chaperone E gene. In a family with two affected siblings with SSS, preimplantation genetic diagnosis (PGD) was performed. Read More

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http://dx.doi.org/10.1002/pd.841DOI Listing
April 2004
6 Reads

The dentofacial features of Sanjad-Sakati syndrome: a case report.

Authors:
M I Al-Malik

Int J Paediatr Dent 2004 Mar;14(2):136-40

Dental Department, King Fahd Armed Forces Hospital, PO Box 419, Jeddah 21411, Saudi Arabia.

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. Read More

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http://dx.doi.org/10.1111/j.1365-263x.2004.00527.xDOI Listing
March 2004
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Nat Genet 2002 Nov 21;32(3):448-52. Epub 2002 Oct 21.

Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. Read More

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http://dx.doi.org/10.1038/ng1012DOI Listing
November 2002
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Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Am J Med Genet 1999 Jul;85(1):48-52

Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA.

The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal recessive form of Kenny-Caffey syndrome (KCS; MIM244460), with similar manifestations but lacking osteosclerosis. Since KCS was recently linked to the region 1q42-q43, the possibility that this disorder is allelic with SSS was considered. Read More

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http://dx.doi.org/10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-yDOI Listing
July 1999
5 Reads
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