Prevalence of Bifid Tongue and Ankyloglossia in South Indian Population with an Emphasis on its Embryogenesis

Rai, Rohan; Ashwin, R.; Rai, Rajalakshmi; Bhat, Keshav; Muralimanju, B. V.

doi:10.4067/s0717-95022012000100032

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…The absolute pathogenesis of ankyloglossia remains unknown. [ 3 ] While most cases of ankyloglossia are sporadic, mutations in the T-box transcription factor TBX22 may lead to heritable (X-linked) ankyloglossia with or without cleft lip, cleft palate and/or hypodontia. [ 8 ] Reports suggest that there is a genetic basis for the microvariation in the attachment of genioglossus muscle due to the mutations present in the TBX22 gene.…”

Section: Discussionmentioning

confidence: 99%

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Ankyloglossia with cleft lip: A rare case report

Jangid

Alexander

Jayakumar

et al. 2015

J Indian Soc Periodontol

115

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Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

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Section: Discussionmentioning

confidence: 99%

“…[ 2 ] Among South Indian population, the occurrence of tongue tie is relatively rare with an incidence of 0.2%. [ 3 ]…”

Section: Introductionmentioning

confidence: 99%

Ankyloglossia with cleft lip: A rare case report

Jangid

Alexander

Jayakumar

et al. 2015

J Indian Soc Periodontol

115

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“…Their study showed excess functional promoter haplotype in cleft palate patients with ankyloglossia than without ankyloglossia, indicating that ankyloglossia is a useful, but not exclusive, diagnostic feature to identify the X-linked patients (Pauws et al, 2009b). However, in the south Indian population, the occurrence of ankyloglossia is relatively rare, with an incidence of 0.2% (Rai et al, 2012).…”

Section: Discussionmentioning

confidence: 94%

Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women

Gurramkonda¹,

Hussain

Murthy

et al. 2015

Clinical Dysmorphology

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The aetiology of nonsyndromic cleft lip with or without cleft palate (NSCLP) is complex and involves both genetic and environmental risk factors. Classical research has shown that growth and patterning of the developing palatal shelves depend on epithelial-mesenchymal interactions. Expression of several signalling molecules and transcription factors in the anterior palate during early palate development has been documented. TBX22 encodes a T-box containing transcription factor and mutations in this gene are responsible for X-linked cleft palate and ankyloglossia. In the present study, we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system. As the SNPs are located on chromosome X, the association analysis was carried out separately in men and women. Significant associations of rs7055763 (P=0.034) and rs41307258 (P=0.022) with NSCLP were found only in women. Both polymorphisms increased the risk for NSCLP in the heterozygous and homozygous variant state, but this was not significant. Both SNPs were not associated with a risk for NSCLP in men. Pair-wise linkage disequilibrium between rs7055763 and rs41307258 was strong and significant (D'=0.97 and r2=0.77). Only three haplotypes were observed with an estimated frequency more than 5%. Haplotype AA, which carries both mutant alleles (rs7055763 A - rs41307258 A), was significantly associated with an increased risk of NSCLP in women, but not in men. Our study showed a significant role of TBX22 promoter polymorphisms (rs7055763 and rs41307258) in the pathogenesis of NSCLP and reinforces the previous findings of a strong link between X-linked genes and orofacial clefts.

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“…Partial ankyloglossia and median grooved tongue could be congenital defects linked to breast feeding difficulties of those patients. [22][23][24] All studied PWS patients had infantile hypotonia and at least two PWS facial features during neonatal and early childhood period, while sixteen patients (94.1%) had feeding difficulties. At the time of examination all studied patients presented with hypotonia.…”

Section: Resultsmentioning

confidence: 99%

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

et al. 2019

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Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in the detection of most affected individuals. The objective was to report the clinical criteria and oro-dental features in PWS, to report the effect of diet and laser acupuncture on PWS and highlighted an easy effective method for early diagnosis of individuals with PWS. The study included seventeen cytogenetically proven individuals with Prader-Willi syndrome. These patients were subjected to meticulous history taking, clinical examination including oro-dental examination, bone densitometry and neuropsychiatric evaluation. They received laser acupuncture sessions in addition to nutrition intervention. All cases had characteristic facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were present in different percentages. Karyotyping revealed deletion 15q11-q13 in 6 patients, and fluorescence in situ hybridization (FISH) revealed a microdeletion in 15q11–q13 in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture sessions and diet were effective in weight decline for PWS patients. Our study emphasizes the importance of early detection of PWS, laser sessions, diet restriction and oro-dental examination in the follow up of patients with Prader Willi syndrome.

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Prevalence of Bifid Tongue and Ankyloglossia in South Indian Population with an Emphasis on its Embryogenesis

Cited by 8 publications

References 7 publications

Ankyloglossia with cleft lip: A rare case report

Ankyloglossia with cleft lip: A rare case report

Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

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