Endocrinological Manifestations of Sanjad-Sakati Syndrome

Bashar, Masharib; Taimur, Muhammad; Amreek, Fnu; Sayeed, Khalid A; Tahir, Amber

doi:10.7759/cureus.8770

Cited by 6 publications

(6 citation statements)

References 15 publications

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“…SSS has a wide range of endocrinological symptoms. According to Bashar et al, hypoparathyroidism remains the most common manifestation of this condition [ 9 ]. This leads to high phosphorus and low blood calcium levels.…”

Section: Discussionmentioning

confidence: 99%

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

Alomar¹,

Alghafees²,

Seyam³

et al. 2022

Cureus

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Sanjad-Sakati syndrome (SSS) is an autosomal recessive genetic condition, with the first report discussing this condition presented in Saudi Arabia. This case report describes an iatrogenic stone as a result of hypocalcemia overtreatment, along with its subsequent management procedure. The current literature concerning the iatrogenic stone occurrence and the operative outcome of percutaneous nephrolithotomy in individuals with SS is scarce, warranting further investigation.

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Section: Discussionmentioning

confidence: 99%

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

Alomar¹,

Alghafees²,

Seyam³

et al. 2022

Cureus

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“…However, rare cases have survived up to the age of 18 years. 12 Complications related to disorders of calcium–phosphate metabolisms, such as intracranial calcification and corneal opacification have been documented in literature. 4…”

Section: Prognosismentioning

confidence: 99%

“…All of these features result from significant prenatal and postnatal growth retardation. 4,8 The disorder is characterized by congenital hypoparathyroidism leading to early onset hypocalcemic seizures. In addition, ocular anomalies, such as nanophthalmos, retinal vascular tortuosity, and corneal opacification, were documented in literature.…”

Section: Introductionmentioning

confidence: 99%

“…HDR consists of hypoparathyroidism leading to sever hypocalcemic seizures, intrauterine and postnatal growth retardation, typical facial features, and variable cognitive impairment associated with developmental delay. [2][3][4] The prevalence is not well established.…”

Section: Introductionmentioning

confidence: 99%

“…These subunits are involved in the assembly of tubulin cytoskeleton protein responsible for cellular trafficking, signal transduction, and cell migration. 4 Most of the reported patients are from the Arabian Peninsula. 5 In addition, the other cases documented with SSS are Arabic in origin from Tunisia, Morocco and from the Ahvaz region of Iran that all presented the same TBCE gene mutation.…”

Section: Introductionmentioning

confidence: 99%

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Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

2022

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Sanjad-Sakati syndrome (SSS) (Online Mendelian Inheritance in Man 241410) is a rare autosomal recessive disorder also known as hypoparathyroidism-retardation-dysmorphism syndrome. It is characterized by congenital hypoparathyroidism, growth retardation, typical facial features, and variable developmental delay. SSS is caused due to mutations of the tubulin-specific chaperone E (TBCE) gene. In this article, we reported the first Libyan child of first parental consanguinity with SSS and whole exome sequencing results identified the homozygous missense variant c.155–166del and it encodes p.(Ser52-Gly55del) (chr1:235564867) located in the TBCE gene, chromosome 1q42.3. In addition, the patient was also diagnosed with congenital hypothyroidism and presented with acquired bilateral cataract in the first year of life. Most likely, all Arab patients with SSS syndrome have the same TBCE gene mutation.

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Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association

et al. 2021

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Endocrinological Manifestations of Sanjad-Sakati Syndrome

Abstract: Bashar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Cited by 6 publications

References 15 publications

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

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

Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association

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