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

Touati, A.; Nouri, Saeed; Halleb, Yosra; Kmiha, Sana; Mathlouthi, Jihen; Tej, Amel; Mahdhaoui, N.; Ahmed, Adamu; Saâd, Ali; Bensignor, C.; Brahim, D. H’mida Ben

doi:10.1016/j.arcped.2018.11.012

Cited by 8 publications

(9 citation statements)

References 23 publications

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“…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%

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

Bouattour

KamounFeki

Bouchaala

et al. 2019

Journal of Pediatric Neurology

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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.

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Section: Discussionmentioning

confidence: 99%

“…2). We had calculated for our patients the clinical score of SSS proposed by Touati et al 3 All patients had five major criteria and one minor criteria, the hypotonia, which was found in all of our cases, without urogenital abnormalities. Clinical and paraclinical findings of our patients are summarized in ►Table 1.…”

Section: Clinical Observationsmentioning

confidence: 99%

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

Bouattour

KamounFeki

Bouchaala

et al. 2019

Journal of Pediatric Neurology

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“…The patient's phenotype initially suggested SSS due to three aspects. First, the presence of a highly indicated molecular testing via a 6.5 point score on using the diagnostic criteria scale described by Touati et al (2019). The scoring system assigns one point each for major criteria and one-half point for minor criteria, and concludes that a clinical-molecular diagnosis of SSS is likely when an individual's score reaches 5 points.…”

Section: Discussionmentioning

confidence: 99%

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

Cavole

Perrone

Soares

et al. 2020

American J of Med Genetics Pt A

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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.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.

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“…Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder that may affect both genders. This syndrome known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome has been described mainly in the Middle East regions with a higher prevalence among Arab population [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…Children with SSS may exhibit congenital hypoparathyroidism, with severe intrauterine, postnatal growth, mental retardation, intellectual disability, and dysmorphic features [2,3,5].…”

Section: Introductionmentioning

confidence: 99%

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

Chouchène

Khalifa

Masmoudi

et al. 2022

Case Reports in Dentistry

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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.

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

Cited by 8 publications

References 23 publications

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

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

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

Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome

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