A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review

Shetty, Prakash; Shetty, Deepthi; Priyadarshana, P.S.; Bhat, Smitha

doi:10.1016/j.jobcr.2015.05.003

Cited by 14 publications

(17 citation statements)

References 5 publications

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“…There is a great variation of anatomical characteristic of lingual frenulum reported in the literature including both healthy 2-7 subjects and individuals with syndromes [23][24][25][26][27][28] . However, the literature about posterior lingual frenulum is scarce [8][9][10][11][12][13] .…”

Section: Discussionmentioning

confidence: 99%

Posterior lingual frenulum in infants: occurrence and maneuver for visual inspection

Martinelli

Marchesan²,

Berretin-Felix

2018

Rev. CEFAC

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Purpose: to verify the occurrence of posterior or submucosal lingual frenulum and evaluate the efficiency of a special maneuver for its visual inspection. Methods: an experimental study including 1,715 healthy infants, in which prematurity, perinatal complications, craniofacial anomalies neurological disorders, and visible genetic syndromes were the exclusion criteria. A clinical examination was performed by means of a maneuver that consisted in rising the lateral margins of the tongue to visualize the anatomical characteristics of the lingual frenulum. In some of the infants, a special maneuver was performed to assist visualization of posterior lingual frenulum, since its visualization was not possible. The maneuver consisted in two simultaneous actions: elevating and pushing the tongue back. Results: 558 infants (32.54%), out of the 1,715 had posterior frenulum, which required the special maneuver that consisted in both elevating and pushing the tongue back, simultaneously. Conclusion: the occurrence of posterior lingual frenulum was high and the special maneuver consisted in elevating and pushing the tongue back proved to be efficient to visualize the posterior lingual frenulum.

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Section: Discussionmentioning

confidence: 99%

Posterior lingual frenulum in infants: occurrence and maneuver for visual inspection

Martinelli

Marchesan²,

Berretin-Felix

2018

Rev. CEFAC

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“…Estudios genéticos realizados en humanos han sugerido que la anquiloglosia tiene carácter hereditario, ocurriendo con mayor frecuencia en el sexo masculino (Martinelli et al, 2013;LeTran et al, 2019), pudiendo estar relacionada con el cromosoma X y ser el resultado de mutaciones en el gen T-box, con herencia autosómica dominante y penetrancia incompleta (Klockars, 2007;Klockars & Pitkaranta, 2009;Klockars et al, 2012;Han et al, 2012;Devasya & Sarganpala, 2017). Su ocurrencia puede ser aislada (Lenormand et al, 2018) o asociada a síndromes genéticos (Soman & Lingappa, 2015;Shetty et al, 2015;Singh et al, 2017;Srivastav et al, 2019).…”

Section: Introductionunclassified

Profile of Scientific Production on Ankyloglossia

Martinelli¹,

Gusmão

Daza

et al. 2020

IJMSS

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This work aims to describe the profile of scientific production referring to ankyloglossia. For this an investigation was carried out by searching for scientific articles indexed in the electronic databases LILACS and PUBMED. For the bibliometric review, the data referring to the year of publication, type of study and level of evidence were examined and tabulated. The data were discussed on the quantitative and representative values optics. The first results allowed to analyzic 651 published studies were analyzed. Most of the research on tongue tie found correspond to descriptive studies and case series (49.31%), followed by case reports, in vitro research, in animals and literature review (24.27%), cohort and cases and controls (11.98%), specialist opinion (11.68%), randomized clinical trials (1.54%) and systematic reviews (1.22%). Few studies addressed complications during or after lingual frenulum release surgery. In conclusion Scientific production on ankyloglossia has shown an increasing increase in the last 28 years, with studies with evidence levels 1, 2 and 3 being published, whose main focus was the performance of surgery to release the lingual frenulum.

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“…Ellis and Simon Van Creveld. [1] In 1964, McKusick et al, reported a large number of cases in the Amish community of Lancaster country, Pennsylvania USA with prevalence rate of 1/50,000 live birth. [2] In nonAmish population, the estimated birth prevalence is 7/1,000,000.…”

Section: Introductionmentioning

confidence: 99%

“…Around 150 cases are described in literature and not more than 25 cases have been reported in India. [1] EVCS is caused by mutations of the EVC1 and EVC2 genes and inherited by autosomal recessive mode with parental consanguinity in about 30% of cases. [3] EVCS is considered a part of an emerging class of diseases called ciliopathies.…”

Section: Introductionmentioning

confidence: 99%

“…[4] dwarfism, bilateral postaxial polydactyly, ectodermal dysplasia and congenital heart defects. [1] CASE REPORT A preterm male baby was born to a 32 year old G5P4L3 mother by vaginal delivery in the hospital. Baby was a product of non consanguineous marriage with no antenatal or perinatal complications, but family history was significant.…”

Section: Introductionmentioning

confidence: 99%

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