Sanjad-Sakati syndrome in a Tunisian child

Kerkeni, Emna; Sakka, Rania; Sfar, Sana; Bouaziz, S.; Ghedira, Nehla; Ameur, K. Ben; Hmida, H. Ben; Chioukh, Fatma-Zohra; Ghedira, Elyes Slim; Gribaa, Moez; Monastiri, K.

doi:10.1016/j.arcped.2015.06.003

Cited by 10 publications

(8 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The detected mutation in our studied cases is the same as the one commonly reported in SSS patients of Arab origin from the Middle East. 1 , 9 , 10 , 14 , 15 Available genetic data, including same mutation in all Arab patients from Iran and other Arab populations in the Middle East, is consistent with a founder effect mutation which spread to the Middle Eastern area. 10 Thus, until now—except for the 12-bp deletion—different mutations in the TBCE gene have been reported in other studies.…”

Section: Discussionsupporting

confidence: 61%

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

Aminzadeh

Galehdari

Shariati

et al. 2020

Jornal de Pediatria

View full text Add to dashboard Cite

Section: Discussionsupporting

confidence: 61%

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

Aminzadeh

Galehdari

Shariati

et al. 2020

Jornal de Pediatria

View full text Add to dashboard Cite

“…To our knowledge, only four cases of SSS were reported previously in the Tunisian population. 3,4 In this rare autosomal recessive syndrome, neurological manifestations were not detailed in all previous publications. The first case was originally described by Sanjad et al 1 in Saudi Arabia in12 cases in 1991.…”

Section: Discussionmentioning

confidence: 99%

Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia

Bouattour

KamounFeki

Bouchaala

et al. 2019

Journal of Pediatric Neurology

View full text Add to dashboard Cite

Sanjad–Sakati syndrome (SSS), or hypoparathyroidism–mental retardation dysmorphism syndrome, is a rare autosomal recessive congenital disorder characterized by congenital hypoparathyroidism, growth and neurodevelopmental delay, acute symptomatic seizures due to hypocalcemia, and dysmorphic features. The syndrome is underdiagnosed, and neurological manifestations are not previously described. We report three Tunisian patients with SSS revealed by acute symptomatic hypocalcemic epileptic seizures. Despite the well-controlled seizures, patients tend to continue having poor growth and neurological outcome. The diagnosis of SSS allowed for proper treatment of the patients, prevented associated comorbidities, and provided genetic counseling to their families.

show abstract

“…Almost all the patients were from Arab countries (Morocco, Egypt, Oman, Jordon, Kuwait, Sudan, Qatar, Saudi Arabia, and Tunisia), and only three were from non-Arab origin (Belgium and India) [2,6,7,[9][10][11].…”

Section: Discussionmentioning

confidence: 99%

“…SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All the affected patients of Arab origin have shown homozygosity for a 12 bp (155-166 del) deletion in exon 3 of the TBCE gene [8,11].…”

Section: Discussionmentioning

confidence: 99%

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

Chouchène

Khalifa

Masmoudi

et al. 2022

Case Reports in Dentistry

View full text Add to dashboard Cite

Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive congenital disorder. The present case report is aimed at describing the orofacial manifestations and dental management of a 4-year seven-month-old, Tunisian boy with SSS. The patient has typical dysmorphic facial features and growth retardation. Intraoral examination revealed micrognathic mandible and maxilla, an arched palate, and small dental arches with an open bite. All the maxillary and mandibular teeth were decayed due to the poor oral hygiene, plaque accumulation, and enamel hypoplasia. Oral rehabilitation involved pulpotomies and root canal therapies on decayed teeth. Resin composite restorations were performed on maxillary and mandibular incisors, and stainless-steel crowns were placed on maxillary and mandibular first and second primary molars. Dental treatment of children with SSS should improve their quality of life and their general health. Undeveloped dental arches associated with dental anomalies as well as learning deficit make very difficult of the oral rehabilitation of such patients.

show abstract

Sanjad-Sakati syndrome in a Tunisian child

Cited by 10 publications

References 24 publications

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

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

Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

Contact Info

Product

Resources

About