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Objectives:
To describe the oro-facial manifestations and dental management in a girl with Sanjad Sakati syndrome.
Clinical presentation and intervention:
Facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. Oral examination revealed oligodontia/hypodontia, small dental arches, high arched pal...
Context in source publication
Context 1
... general examination showed delayed physical growth; her height was 112 cm, and weight 17 kg. She had small hands and feet with short and thin digits (Fig. 1). An extraoral head and neck ex- amination revealed microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An intraoral examination re- vealed oligodontia/hypodontia, poor oral hygiene with plaque ac- cumulation, chronically inflamed gingivae, small dental arches, a high arched palate, and a deep overbite and increased overjet. There were multiple missing and carious teeth. The upper left cen- tral incisor (#21) was heavily decayed and tender to percussion, the lower left lateral incisor was badly broken (#32), and both low- er first molars (#36 and 46) were carious and lingually tilted. Both upper first molars (#16 and 26) had been restored with stainless steel crowns at the age of 8 years because of severe hypoplasia (Fig. 2). No sinus tracts or soft tissue abnormalities were identi- fied. The tongue was small and pointed (Fig. 3). Orthopantomog- raphy revealed delayed dental development, incomplete root for- mation of lower first molars, taurodontism of upper and lower first molars, absence of third molar dental follicles, and multiple missing teeth (Fig. 4). Saliva appeared to be of normal quantity and consistency. A comprehensive treatment plan was formulated and discussed with the girl and her family. The disease control phase of our treat- ment plan involved extraction of the unrestorable lower left lat- eral incisor (#32), root canal therapy of a nonvital upper left central incisor (#21), scaling and polishing of the teeth, oral hygiene in- structions, and dietary counseling. Carious teeth were restored us- ing resin-bonded ...
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Background:
A dental appliance for obstructive sleep apnea (OSA) is recommended for patients who cannot adjust to continuous positive airway pressure (CPAP) treatments.
Objectives:
To describe patients with extremely severe OSA who were successfully treated with a dental appliance and to compare their characteristics with the relevant literature...
Aims and Objectives
The reverse pull headgear has been widely used to intercept a developing skeletal Class III malocclusion with maxillary deficiency. Rapid maxillary expansion (RME) is recommended along with the reverse pull headgear because there is disruption of the circummaxillary and intermaxillary sutures. This, in turn, expedites the orthop...
Citations
... The most common abnormal physical findings of this syndrome are microcephaly, narrow and long face, beaked nose, deep-set eyes, large ears, thin lips, long philtrum, and small hands and feet. 4,5,6,7,8 Some of these features resemble Kenny-Caffey syndrome, DiGeorge syndrome, and familial isolated hypoparathyroidism, but the absence of a cardiovascular lesion, lymphocytopenia, or skeletal malformation makes it a different problem. 9 Ophthalmological assessments help us to differentiate Sanjad-Sakati and Kenny-Caffey syndromes. ...
Sanjad-Sakati syndrome is a rare autosomal recessive genetic disorder that presents solely in Arabian people. Our case was reported from the Fallujah Teaching Hospital for Women and Children in Fallujah, Iraq. This syndrome is associated with hypoparathyroidism, growth retardation, atypical facial appearance, and a variable degree of mental retardation. It is usually caused by genetic mutations of the tubulin-folding cofactor E (TBCE; 604934), which is located on the 1q42.3 chromosome. This case was confirmed by a genetic study which revealed a pathogenic variant in the homozygous state in the TBCE gene. Typically, the physical features of this case involve microcephaly, long and narrow face, beaked nose, deep-set eyes, large ears, thin lips, long philtrum, micrognathia, and small hands and feet. Although Sanjad-Sakati syndrome is an incurable disease, early diagnosis helps with appropriate palliative treatment of the patient, reducing other associated metabolic and electrolyte disturbances, and allows for a genetic study and counseling of the family, especially in our society due to the high rate of consanguinity.
... However, many of the included studies in this systematic review did not perform molecular analysis. Only 23 studies [41,43,52,53,56,63,[66][67][68]70,73,74,76,78,79,[87][88][89][90]92,94,98,105] performed genetic analysis and reported the genetic variants associated with the syndromes. These genes can be grouped into two major groups: one with crucial roles at multiple stages of tooth development, also involving skin and sweat glands (AXIN2, CDH1, DSP, EDA, EDARADD, EVC2, FGFR2, LEF1, MSX1, PITX2, and WNT10A), which are involved in the signal pathway essential for ectodermal structure development [121,122]; the other with genes that intermediate cellular function and development (NPHP1, PCNT, PTCH1, IKBKG, SRCAP, and TBCE). ...
The aim of this systematic review was to describe the clinical and genetic features of syndromes showing oligodontia as a sign. The review was performed according to the PRISMA 2020 checklist guidelines, and the search was conducted using PubMed, Scopus, Lilacs, Web of science, Livivo, and EMBASE and supplemented by a gray literature search on Google Scholar and ProQuest, applying key terms relevant to the research questions. The systematic review identified 47 types of syndromes in 83 studies, and the most common was hypohidrotic ectodermal dysplasia, which was reported in 24 patients in 22 studies. Other common syndromes that reported oligodontia included Axenfeld–Rieger syndrome, Witkop’s syndrome, Ellis–van Creveld syndrome, blepharocheilodontic syndrome, and oculofaciocardiodental syndrome. The X-linked mode of inheritance was the most reported (n = 13 studies), followed by the autosomal dominant (n = 13 studies). The review describes the main syndromes that may have oligodontia as a clinical sign and reinforces the need for orodental–facial examining for adequate diagnosis and treatment of the affected patients. Molecular analysis in order to better understand the occurrence of oligodontia is imperative.
... 38,[39][40][41][42][43][44][45] and Iran 12,46,47 reported fewer than 10 patients, whereas fewer than 5 patients were reported from the United States of America, 3,10,48,49 Turkey, 8,[50][51][52] Tunisia, 53 Greece, 54 and Nepal. 55,56 The countries with only 1 treatment reported were France, 6 Ireland, 57 Pakistan, 58 Bangladesh, 59 the United Kingdom, 60 the Republic of Korea, 61 Poland, 62 Jordan, 63 Kenya, 64 China, 65 and Germany. 66 All the reports clearly described the demographic details of the patients and the patient's initial clinical condition. ...
... Sixty-eight reports described hypodontia or oligodontia of the maxilla, 3 16,21 Simpson-Golabi-Behmel syndrome, 51 Papillon-Lefevre syndrome, 58 Russell-Silver syndrome, 61 Axenfeld-Rieger syndrome, 57 rhabdomyosarcoma, 66 Sanjad Sakati syndrome, 63 progeroid syndrome, 39 or Jeune syndrome. 45 Most authors advocated the fabrication of a CD 6,8,10,13,15,17,22,23,26,28,33,34,36,38,43,44,52,59,62,64 or OD 12 for complete edentulism. ...
... 45 Most authors advocated the fabrication of a CD 6,8,10,13,15,17,22,23,26,28,33,34,36,38,43,44,52,59,62,64 or OD 12 for complete edentulism. Partial edentulism was managed with an RPD, 12,13,17,18,20,24,26,[28][29][30][31]33,37,38,40,41,43,[52][53][54][55][56][57][58][59]63,64 ODs, 3,[10][11][12]15,16,18,19,[47][48][49]54,60,61 a precision attachmentretained interim RPD, 21 overlay RPDs, 46 rotational path RPDs, 45 a cast partial denture, 25 a mobile pediatric prosthesis, 50 or CDs. 39,53 Conical teeth, if present, were modified with composite resin restorations, 12,30,41,48,54 complete coverage crowns, 38 or direct composite resin laminates. ...
Statement of problem:
Dental agenesis is a condition in which the absence of teeth causes debilitating problems, primarily in speech, mastication, and esthetics. The optimal removable prosthetic management for the condition is unclear.
Purpose:
The purpose of this systematic review was to evaluate the spectrum of removable prosthetic techniques with regard to the type of edentulism and to provide clinical guidance for practicing dentists.
Material and methods:
An electronic and manual search was conducted in the PubMed, Scopus, and Google Scholar databases. Publications of case reports and series written in English without data restrictions that reported on removable prosthodontic management of patients with oligodontia, hypodontia, or anodontia were included.
Results:
A total of 59 articles comprising 83 case reports were analyzed. In patients with anodontia, the most common treatment option was an acrylic resin complete denture. Hypodontia and oligodontia were commonly managed by using either a partial denture or overdenture. Irreversible hydrocolloid or alginate was the most accepted material for the preliminary impressions and elastomeric materials for definitive impressions. The tooth arrangements were modified to simulate natural dentition and improve esthetics. Modifications of conventional acrylic resin dentures have been proposed for improved denture adaptation. Good retention is essential to the long-term success of prosthetic treatment and may be achieved with a denture reline or with retention clasps. The active growth of the patients means constant maintenance, including denture renewals or repairs, emphasizing the need for long-term follow-up care.
Conclusions:
Prosthodontic rehabilitation at an early age has been shown to significantly impact the overall quality of life for a child with tooth agenesis.
... 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]. ...
... This rare autosomal syndrome has been also predominantly reported in patients of Arab origin [5]. This may be explained by the norms of consanguineous marriage which are dominant and widespread in these regions, thus resulting in the retention and increased rate of homozygote autosomal recessive genetic disorders in these populations [1]. SSS is characterized by the presence of congenital severe hypocalcemia, hypoparathyroidism, and hyperphosphatemia leading to early onset of epileptic seizures. ...
... Children suffering from SSS have typical dysmorphic craniofacial features including microcephaly, narrow face, large floppy ears, deep-set eyes, thin lips, depressed nasal bridge, micrognathia, and abnormal dentition [1,[3][4][5][6][7]. ...
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.
... The search of three databases yielded eleven case reports [6,7,10,13,[16][17][18][19][20][21][22] and three studies [1,3,23]. The retried case reports are summarized in Table 1 and the case series studies are outlined in Table 2. ...
... Frequently reported dental manifestations of SSS are: delayed teething, dental caries, abnormal tooth shape, high-vaulted palate, micrognathia, supernumerary maxillary right lateral deciduous incisors, microdontia, oligodontia, deep overbite, and increased overjet [1,3,6,7,10,13,[16][17][18][19][20][21][22][23]. The reported facial findings include a beaked nose, deep-set eyes, depressed nasal bridge, floppy ear lobes, frontal bossing, large and low-set years, long philtrum, microcephaly, and thin upper lip [1,3,6,7,10,13,[16][17][18][19][20][21][22][23]. ...
... Frequently reported dental manifestations of SSS are: delayed teething, dental caries, abnormal tooth shape, high-vaulted palate, micrognathia, supernumerary maxillary right lateral deciduous incisors, microdontia, oligodontia, deep overbite, and increased overjet [1,3,6,7,10,13,[16][17][18][19][20][21][22][23]. The reported facial findings include a beaked nose, deep-set eyes, depressed nasal bridge, floppy ear lobes, frontal bossing, large and low-set years, long philtrum, microcephaly, and thin upper lip [1,3,6,7,10,13,[16][17][18][19][20][21][22][23]. Low parathyroid hormone levels, which lead to hypocalcemia, were also proposed as the etiology of enamel hypoplasia and enamel opacities [39]. ...
Aim:
To perform a comprehensive review of orofacial manifestations of Sanjad-Sakati syndrome (SSS).
Methods:
A comprehensive electronic literature search was performed using PubMed, Scopus and Cochrane library databases. The search keywords included were "Sanjad-Sakati syndrome (SSS)", "dental manifestations", "dental management", "oral health", "dental care for patients with SSS", "dental health of people with SSS", "caries", and "oral hygiene". The inclusion criteria were papers published only in English, papers published by August 2021, and papers discussing orofacial manifestations of SSS and language.
Results:
The search of the databases retrieved eleven case reports and three case series studies. Overall, 56 cases (11 case reports and 3 case series studies) were reported on Sanjad-Sakati syndrome in the published literature. The majority of the reports are from the Middle Eastern region.
Conclusions:
The reported orofacial manifestations of SSS include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set ears, posteriorly rotated ears, deep-set eyes, microcephaly, microdontia, micrognathia, prominent forehead, retrognathia, and thin lips. The review paper also establishes the importance of the dental under general anesthesia in SSS individuals.
... Patients having hypoparathyroidism showed decreased mandibular cortical thickness [39]. Sanjad-Sakati syndrome is associated with hypoparathyroidism and micrognathia [40]. The EM group showed small mandibles with a reduced PTH level (Figures 2 and 4A). ...
4-Hexylresorcinol (4HR) has been used as a food additive, however, it has been recently
demonstrated as a Class I histone deacetylase inhibitor (HDACi). Unlike other HDACi, 4HR can be taken through foods. Unfortunately, some HDACi have an influence on craniofacial growth, therefore, the purpose of this study was to evaluate the effects of 4HR on craniofacial growth. Saos-2 cells (osteoblast-like cells) were used for the evaluation of HDACi and its associated activities after 4HR administration. For the evaluation of craniofacial growth, 12.8 mg/kg of 4HR was administered weekly to 4 week old rats (male: 10, female: 10) for 12 weeks. Ten rats were used for untreated control (males: 5, females: 5). Body weight was recorded every week. Serum and head samples were collected at 12 weeks after initial administration. Craniofacial growth was evaluated by micro-computerized tomography. Serum was used for ELISA (testosterone and estrogen) and immunoprecipitation high-performance liquid chromatography (IP-HPLC). The administration of 4HR (1–100 �M) showed significant HDACi activity (p < 0.05). Body weight was significantly different in male rats (p < 0.05), and mandibular size was significantly smaller in 4HR-treated male rats with reduced testosterone levels. However, the mandibular size was significantly higher in 4HR treated female rats with increased growth hormone levels. In conclusion, 4HR had HDACi activity in Saos-2 cells. The administration of 4HR on growing rats showed different responses in body weight and mandibular size between sexes.
... SSS has only recently been described as a syndrome. Association with superior mesenteric artery syndrome and dental, ocular, otolaryngeal, neurological, and anesthesiologic care for patients with SSS have been reported [8,[10][11][12][13]. ...
Background
Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clinical manifestations, outcome, and an observed new association of sleep-disordered breathing (SDB) among children with Sanjad Sakati syndrome.Methods
Clinical and routine laboratory data of SSS cases attending Sultan Qaboos University Hospital, Oman, were collected from the electronic patient records or through direct clinic interviews. In-lab polysomnography (PSG) and echocardiography were carried out for all the cases. SDB diagnosis was based on the guidelines of the American Academy of Sleep Medicine.ResultsOf 12 patients with SSS, 5 males (42%), all of them (100%) had obstructive sleep apnea (OSA) and 4 of them (33%) had additional significant central apnea and sleep-related hypoventilation. Eight patients (67%) had severe SDB with mean apnea–hypopnea index (AHI) of 26.5 events/h. Age at time of diagnosis with SDB ranged from 2 to 17 years with mean of 8.9 \(\pm 4.7\mathrm{ years}.\) Two patients had severe pulmonary hypertension as a complication of severe SDB and died from type 2 respiratory failure.Conclusions
Sleep-disordered breathing is prevalent among children with SSS, especially OSA. This is the first study to report SDB in a large cohort of patients with this extremely rare syndrome. The study results encourage the importance of screening affected patients with SSS for sleep-disordered breathing early before developing severe morbidities such as pulmonary hypertension that further compromise their quality of life.
This chapter investigates the role of 4-hexylresorcinol (4HR) as a histone deacetylase inhibitor (HDACi) specifically targeting Class I and IIa HDACs and its potential therapeutic applications. While 4HR does not directly inhibit Class III HDACs (sirtuins), it has been observed to impact the expression of SIRT3 and 6 through other mechanisms, such as modulating NAD+ levels. The chapter also delves into the effects of 4HR on growing animals, emphasizing the gender-specific influences on body weight, mandibular size, and hormonal levels. These findings underscore the complex relationship between 4HR, its HDACi activity, and hormonal regulation. Further research is needed to better understand the mechanisms behind these effects and to explore the full therapeutic potential of 4HR as an HDACi.
L'oligodontie est une anomalie rare dentaire de nombre. Il s'agit d'un trouble héréditaire caractérisé par l'agénésie de plus de 6 dents temporaires/permanentes, à l'exclusion des dents de sagesse. Non seulement le nombre, mais aussi le type de dents manquantes, doit être pris en compte. Les dents les plus fréquemment absentes sont les prémolaires (15 à 32%), les incisives latérales maxillaires (27%) et les troisièmes molaires (25%) (non considérées dans les anomalies de nombre). Les canines, les premières et deuxièmes molaires (1%) et les incisives centrales maxillaires (0,05 %), sont rarement absentes mais si c’est le cas, une attention particulière doit leur être accordée. Le type de dents manquantes n'est pas une coïncidence ; il est au contraire directement lié au processus de développement dentaire et à la chronologie des évènements biologiques et embryologiques. Les personnes présentant une oligodontie associée à un syndrome systémique sont diagnostiquées comme ayant une oligodontie syndromique (OLS). Enfin, l’anodontie se caractérise par l’absence de toutes les dents.
Les agénésies dentaires se manifestent principalement en denture permanente. Le diagnostic se base sur des éléments cliniques et radiographiques de routine, le signe d’appel étant souvent un retard d'éruption des dents permanentes, entre 6 et 12 ans. Lors du diagnostic, plusieurs autres symptômes dentaires et oraux peuvent être observés, notamment des anomalies dentaires de taille (microdontie) et/ou de forme, un retard de croissance des procès alvéolaires, un défaut d'éruption des dents, une persistance des dents temporaires, un taurodontisme, la présence de diastèmes importants et une supraclusion importante. Des troubles de la phonation et de mastication peuvent également être présents. Cependant, les problèmes esthétiques et psychologiques retrouvés chez ces patients doivent faire l’objet d’une attention particulière pour ces patients, étant donné qu'ils sont souvent associés à une faible estime de soi et à des problèmes d'acceptation sociale. Ainsi, un diagnostic et un traitement précoces sont importants pour encourager et améliorer la fonction masticatoire, l’élocution, l'apparence, la croissance et réduire l'impact psychosocial de cette altération. La thérapie optimale doit inclure une approche d'équipe interdisciplinaire et reposer sur une interaction positive entre les chirurgiens-dentistes pédiatriques, les orthodontistes, les chirurgiens oraux et maxillo-faciaux et d’autres spécialités ou expertises cliniques (prothèse, implantologie, parodontologie, dentisterie restauratrice-endodontie, biologie orale…)
Les deux points clés de ces prises en charge sont la pluridisciplinarité et la coordination entre les différents professionnels de santé. Les Centres de Référence Maladies Rares (CRMR) et de Compétence (CCMR) sont les partenaires privilégiés de cette coordonnation, tout particulièrement à deux étapes de la prise en charge :
1) L’établissement du diagnostic d’agénésie dentaire multiple (oligodontie, anodontie).
2) L’élaboration du projet thérapeutique bucco-dentaire.
Le diagnostic d’une oligodontie ou d’une anodontie est confirmé par une analyse génétique demandée par le CRMR/CCMR et/ou le généticien clinicien, en particulier devant l’association des agénésies dentaires à d’autres signes cliniques. Plus de 50 gènes connus à ce jour sont responsables de formes isolées et/ou syndromiques d’hypodontie, d’oligodontie ou d’anodontie. L’annonce diagnostique de cette anomalie doit être organisée dans un centre spécialisé ou par des professionnels en lien avec un centre spécialisé.
Les objectifs du traitement sont de conserver les dents présentes, d’améliorer la fonction masticatoire et phonatoire, l'esthétique, et de favoriser le bien-être émotionnel et psychologique du patient. Par conséquent, la prise en charge globale du patient atteint d’une oligodontie ou d’une anodontie et de sa famille repose sur une coopération pluridisciplinaire entre le chirurgien-dentiste traitant, les chirurgiens-dentistes des centres spécialisés (experts en odontologie pédiatrique, réhabilitation prothétique, implantologie, parodontologie, dentisterie restauratrice-endodontie, et des spécialistes en médecine bucco-dentaire, orthopédie dento-faciale, chirurgie orale), chirurgien maxillo-facial, le médecin traitant et le généticien. Le patient peut bénéficier, si nécessaire, d’une réunion de concertation pluridisciplinaire (RCP), réunions qui sont également organisées régulièrement entre les différents praticiens des CRMR/CCMR du réseau O-Rares et au sein de la Filière TETECOU.
Rôles/missions du chirurgien-dentiste et du médecin traitant :
S’assurer de la confirmation du diagnostic par un centre de référence ou de compétence,
Participer à la coordonnation de la prise en charge pluriprofessionnelle et multidisciplinaire, en lien avec le centre de référence ou de compétence maladies rares,
Assurer la prise en charge thérapeutique et le suivi bucco-dentaire régulier de proximité,
Adresser le patient vers un centre de référence ou de compétence maladies rares, pour un suivi bucco-dentaire et médical pluridisciplinaire, en fonction des besoins.
Pour se procurer des informations complémentaires il est possible de consulter le site Orphanet (http://www.orpha.net), le site O-Rares (www.o-rares.com) et le site de la Filière TETECOU (www.tete-cou.fr).
