Oral findings in Midline Syndrome: A case report and literature review

Tallón-Walton, Victòria; Nieminen, Pekka; Arte, Sirpa; Ustrell-Torrent, Josep María; Carvalho-Lobato, Patricia; Manzanares-Céspedes, María Cristina

doi:10.4317/medoral.15.e579

Cited by 4 publications

(4 citation statements)

References 15 publications

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“…In mouse, Pax9 and Msx1 are co-expressed during craniofacial development, and in double-mutant mice for these two genes, incompletely penetrant CL and absence of lower incisors have been reported (Table 3 ) (Nakatomi et al 2010 ), suggesting that reduction of PAX9 and MSX1 gene dosage in humans may increase the risk for combined OFC and TA. However, this hypothesis was not confirmed in the study of Tallon-Walton et al ( 2010 ).…”

Section: Resultsmentioning

confidence: 81%

Tooth agenesis and orofacial clefting: genetic brothers in arms?

et al. 2016

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Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia. Altogether, 84 articles including phenotype and genotype description provided 9 genomic loci and 26 gene candidates underlying the co-occurrence of the two congenital defects: MSX1, PAX9, IRF6, TP63, KMT2D, KDM6A, SATB2, TBX22, TGFα, TGFβ3, TGFβR1, TGFβR2, FGF8, FGFR1, KISS1R, WNT3, WNT5A, CDH1, CHD7, AXIN2, TWIST1, BCOR, OFD1, PTCH1, PITX2, and PVRL1. The molecular pathways, cellular functions, tissue-specific expression and disease association were investigated using publicly accessible databases (EntrezGene, UniProt, OMIM). The Gene Ontology terms of the biological processes mediated by the candidate genes were used to cluster them using the GOTermMapper (Lewis-Sigler Institute, Princeton University), speculating on six super-clusters: (a) anatomical development, (b) cell division, growth and motility, (c) cell metabolism and catabolism, (d) cell transport, (e) cell structure organization and (f) organ/system-specific processes. This review aims to increase the knowledge on the mechanisms underlying the co-occurrence of tooth agenesis and orofacial clefts, to pave the way for improving targeted (prenatal) molecular diagnosis and finally to reflect on therapeutic or ultimately preventive strategies for these disabling conditions in the future.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-016-1733-z) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 81%

Tooth agenesis and orofacial clefting: genetic brothers in arms?

et al. 2016

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“…The concomitant presence of numerous dental, oral and facial phenotypic traits in the same young female was notable in our TS cohort. Remarkably, most dental phenotypical traits reported to exhibit familial aggregation in the general population, such as microdontia and dental agenesis [28,29,39,40], were absent in the family members of the TS subjects explored in our study.…”

Section: Discussionmentioning

confidence: 53%

“…The anamnestic general health data relevant to oral health were grouped into two main blocks: data reporting sleep disturbances, and data about respiratory signs and symptoms. These data were specifically searched both on TS subjects and their first-degree relatives, in order to establish whether there was familiar aggregation, as described by Pinho et al [28] and Tallón-Walton et al [29]. Individual aggregation was calculated as the number of signs and symptoms present in each individual, which ranged between 0 and 13.…”

Section: Dental Conditions Recordedmentioning

confidence: 99%

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

Tallón-Walton,

Sánchez-Molins,

et al. 2024

Diagnostics

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Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

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“…These results showed that MLIA almost never segregates with other agenesis phenotypes, as well as that significant familiar aggregation is evident in the MLIA patients (Pinho et al, 2010b). Moreover, microdontia seems to be a part of the same phenotype (Pinho et al, 2009;Pinho et al, 2010b), as is the case for other agenesis (Tallón-Walton et al, 2010a) and for agenesis-related phenotypes, such as the Midline Syndrome (Tallón-Walton et al, 2010b).…”

Section: Introductionmentioning

confidence: 78%

Facial Biotype and Mandibular Growth Adaptation in Maxillary Lateral Incisors Agenesis

Pinho¹,

Carvalho

Manzanares

2014

Int. J. Morphol.

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To verify the eventual relationship between maxillary lateral incisor agenesis (MLIA) and one of the clinically established facial biotypes. The analysis was performed in and between 3 groups: individuals with MLIA, their relatives and a control population defined as "normal" or unaffected. Among these, a comparison between adults and growing individuals was also carried out. The dolicofacial biotype was mainly found in children with bilateral agenesis, while the unilateral agenesis as well as the control population of unaffected children showed mainly a mesofacial pattern. The braquiofacial biotype was prevalent in children without agenesis but (family) related to patients with agenesis. This is the case also for all the adults studied, even if the frequency of the braquiofacial is similar to the one attained by the mesofacial biotype when found in unaffected individuals related with agenesis patients. The notable variability found, evidenced by the high values of the standard deviations calculated for each group, makes difficult to definitely establish a positive correlation between the MLIA and one of the facial biotypes with the present data.

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Oral findings in Midline Syndrome: A case report and literature review

Cited by 4 publications

References 15 publications

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

Facial Biotype and Mandibular Growth Adaptation in Maxillary Lateral Incisors Agenesis

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