Mandibulo-facial dysostosis. A familial study.

Farrar, J E

doi:10.1136/bjo.51.2.132

Cited by 8 publications

(5 citation statements)

References 3 publications

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“…Derivatives from the first and second pharyngeal arches, grooves, and pouches are affected in TCS. 8,9 The typical characteristics of the TCS as stated by Franceschetti and Klein 10 in 1949 are as follows:…”

Section: Discussionmentioning

confidence: 99%

Treacher collins syndrome

Farooqui¹,

Munde²,

Mishra³

et al. 2021

IJMI

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Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality. This article describes clinical features of TCS in a 21-years-old boy.

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Section: Discussionmentioning

confidence: 99%

Treacher collins syndrome

Farooqui¹,

Munde²,

Mishra³

et al. 2021

IJMI

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“…The derivatives first and second pharyngeal arch, groove and pouch are the ones that are affected in TCS. The characteristic features are antimongoloid palpebral fissures with either a notch or coloboma of the outer third of the lower lid, and occasional absence or paucity of the lashes of the lower lid, hypoplasia of the facial bones, especially the malar bones and mandible, malformation of the external ear, and occasionally of the middle and inner ear, with low implantation of the auricle, macrostomia, high palate, malocclusion and abnormal position of the teeth, atypical hair growth in the form of tongue-shaped processes of the hair-line extending towards the cheeks in the pre-auricular region, occasional association with other anomalies, such as obliteration of the naso-frontal angle, pits or clefts between the mouth and ear, and skeletal deformities 6 . Prenatal diagnosis for TCS is possible by two dimensional and three dimensional ultrasonography.…”

Section: Discussionmentioning

confidence: 99%

Treacher Collins syndrome: a case report

Madi¹,

Babu²,

Bhat³

et al. 2018

Cukurova Medical Journal

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Öz Treacher Collins Syndrome or mandibulofacial dysostosis is a rare congenital malformation involving first and second branchial arches and presents several craniofacial deformities. The occurrence of this syndrome is estimated to range between 1 in 40,000 to 1 in 70,000 live births. The syndrome is characterized by anomalies of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures, coloboma of the lower eyelids and cleft palate. Here we report a case of Treacher Collins Syndrome with a narrative review of the clinical features, radiographic findings, differential diagnosis and various treatment options. Treacher Collins Sendromu veya mandibulofasiyal disostosis çeşitli kraniyofasiyal deformasyonlar olarak ortaya çıkan birinci ve ikinci brankial kemerleri içeren nadir bir konjenital bozukluktur. Bu sendromun oluşmasının 70,000 canlı doğumda 1 40.000 ile 1 arasında olduğu tahmin edilmektedir. Bu sendrom auriküler pinna anomalileri, yüz kemikleri hipoplazisi, antimonoloid sarkık palpebral çatlaklar, alt göz kapaklarının kolobom ve yarık damak anomalileri ile karakterizedir. Burada klinik özellikleri, radyografik bulgular, ayırıcı tanı ve çeşitli tedavi seçenekleri ile ayrıntılı bir inceleme ile Treacher Collins sendromu olgusu sunulmuştur.

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“…Franceschetti and Klein reviewed the literature and described the typical characteristics of the syndrome as follows [16]: 1) Antimongoloid palpebral fissures with either a notch or coloboma of the outer third of the lower lid, and occasional absence or paucity of the lashes of the lower lid. 2) Facial bone hypoplasia, especially of the malar bones and mandible.…”

Section: Review Of Literaturementioning

confidence: 99%

“…After this description was published, some of these features were regarded as being of lesser importance and some were emphasized in the diagnosis. Thus Axelsson, et al named the following features as "obligatory" [16] Mittman [17] described additional features of scarring alopecia and acne keloidalis nuchae in a patient who had some of the classic features of TC S.…”

Section: Review Of Literaturementioning

confidence: 99%

Review: Treacher Collins Syndrome: A Brief Review on Diagnostic Aids and Review of Literature with a Case Description

Saquib¹

2019

IJTPS

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Importance: Treacher Collins syndrome (TCS), also called Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant disorder. This condition affects an estimated 1:10,000 to 1:50,000 of living births. Observations: This paper describes a 19 year old male patient suspected with Treacher Collins syndrome. He displayed a moderate form of the disease and a classic phenotype, demonstrating many cardinal features of the disorder. Conclusion and Relevance: Along with diagnostic aids which are helpful in diagnosing the disease, this paper also reviews the literature and syndrome in the light of recent publications with emphasis on pathogenesis (role of neural crest cells) and broad discussion on the syndrome as a whole. Conceptual Paper Volume 3 Issue 1

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Mandibulo-facial dysostosis. A familial study.

Cited by 8 publications

References 3 publications

Treacher collins syndrome

Treacher collins syndrome

Treacher Collins syndrome: a case report

Review: Treacher Collins Syndrome: A Brief Review on Diagnostic Aids and Review of Literature with a Case Description

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