Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome

Duman, Şuayip Burak; Dedeoğlu, Numan; Arıkan, Büşra; Altun, Oğuzhan

doi:10.1007/s00276-020-02558-9

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…У всех пациентов отсутствовали системные заболевания и аномалии челюстно-лицевой области, которые могли бы быть причиной нарушения пневматизации околоносовых воздухоносных пазух [11,13,14].…”

Section: пациенты и методы исследованияunclassified

Radiological anatomy of hypoplastic sphenoid sinuses

Kabak,

Mel’nichenko,

Savrasova

et al. 2023

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The degree of pneumatization of the sphenoid sinus varies in different individuals, including the absence of air cavities in the body of the bone or their hypoplasia. Such options are quite rare, they should be considered when planning and choosing a method of surgical treatment. Objective. To classify sphenoid sinuses of unusual size and shape. Patients and methods. The data of cone-beam computed tomography of 16 patients aged 22 to 70 years with dental and ENT pathology, who had an unusual size and shape of the sphenoid sinuses, were studied in order to classify them. On axial scans, the maximum transverse size (width, diameter) of the sinus was measured. On parasagittal scans, the position of the posterior wall of each sphenoid sinus relative to the sella turcica was assessed, and the distance to the plane drawn through the anterior wall of the sella turcica was also measured. Results. There were 13 cases of unilateral and 3 cases of bilateral hypoplasia of the sphenoid sinus. Bilateral hypoplasia is a rare variant of individual variability. With unilateral hypoplasia, the contralateral air cavity may not extend beyond the body of the sphenoid bone or extend into other parts of it or adjacent structures. Conclusion. When diagnosing unilateral hypoplasia of the sphenoid sinus, one should not only consider its distance from the anterior wall of the Turkish saddle but also correlate the absolute dimensions of the two air cavities.

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Section: пациенты и методы исследованияunclassified

Radiological anatomy of hypoplastic sphenoid sinuses

Kabak,

Mel’nichenko,

Savrasova

et al. 2023

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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Mégarbané¹,

Hana²,

Mégarbané³

et al. 2021

Mol Syndromol

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We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

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Sfenoid Sinüs Agenezisi ve Hipoplazisinin Konik Işınlı Bilgisayarlı Tomografi ile Tespiti: Retrospektif Bir Çalışma

Karabaş

Göksel

Özcan

2021

Kocaeli Üniversitesi Sağlık Bilimleri Dergisi

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Çalışmanın amacı sfenoid sinüste görülen hipoplazi ve agenezi varlığı ve sıklığının konik ışınlı bilgisayarlı tomografi ile değerlendirilmesidir. Yöntem: Kliniğimizde Aralık 2015-Ocak 2018 tarihleri arasında alınan ve sfenoid sinüsün görüntüleme alanına girdiği konik ışınlı bilgisayarlı tomografi görüntüleri retrospektif olarak taranmıştır. 18-86 yaş aralığındaki 131 kadın ve 119 erkek olmak üzere toplam 250 hastaya ait görüntüler çalışmaya dahil edilmiştir. Bulgular: Sağ sfenoid sinüs hipoplazisi 17 hastada (%6,8), sol sfenoid sinüs hipoplazisi de 17 hastada (%6,8) görülmüştür. Sfenoid sinüs agenezisi ise 2 hastada (%0,8) tespit edilmiştir. Sfenoid sinüs hipoplazisi ve agenezisi ile cinsiyet arasında istatistiksel olarak anlamlı bir ilişki bulunamamıştır. Sonuç: Transnazal-transsfenoidal hipofizektomi operasyonlarının planlanmasında sfenoid sinüsün varyasyonlarının üç boyutlu olarak değerlendirilmesi önemli olup ameliyat öncesi kemik yapıdaki anatomik varyasyonların değerlendirilmesinde bilgisayarlı tomografi ve konik ışınlı bilgisayarlı tomografi kullanımı tavsiye edilmektedir.

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Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome

Cited by 3 publications

References 11 publications

Radiological anatomy of hypoplastic sphenoid sinuses

Radiological anatomy of hypoplastic sphenoid sinuses

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Sfenoid Sinüs Agenezisi ve Hipoplazisinin Konik Işınlı Bilgisayarlı Tomografi ile Tespiti: Retrospektif Bir Çalışma

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