Otomandibular deformity: Pathogenesis as a guide to reconstruction

Poswillo, David

doi:10.1016/s0301-0503(74)80018-4

Cited by 148 publications

(52 citation statements)

References 1 publication

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“…O culo-auriculo-vertebral spectrum (OAVS) (Online Mendelian Inheritance in Man, 164210) 1 is a rare heterogeneous congenital condition (incidence, 1:3500 -5600 live births; male/ female ratio, 3:2), [2][3][4] in which the head structures originating from the first and second pharyngeal arches are incompletely developed on 1 (85% of cases) or both sides. 3,5 The disease mostly results in ear (microtia) and jaw (hemifacial microsomia) abnormalities (On-line Fig 1).…”

mentioning

confidence: 99%

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Manara

Brotto²,

Ghiselli³

et al. 2015

American Journal of Neuroradiology

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BACKGROUND AND PURPOSE:Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculovertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients.

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mentioning

confidence: 99%

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Manara

Brotto²,

Ghiselli³

et al. 2015

American Journal of Neuroradiology

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“…The Ndst1 mutants exhibit various degrees of tongue agenesis and dysmorphogenesis that have only recently been recognized as part of the HFM spectrum (Chen et al, 2009). HFM has been thought to be due to embryonic hemorrhages (Poswillo, 1974), but a more recent model hypothesized a genetic basis (Cousley et al, 2002;Dabir and Morrison, 2006). TCS is an autosomal-dominant disorder of craniofacial development caused by loss-of-function mutation in TCOF1 that encodes a nucleolar phosphoprotein involved in ribosomal biosynthesis (Trainor et al, 2009), and, notably, the Ndst1 gene is located in the flanking region of the TCOF1 locus (Dixon et al, 1995).…”

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confidence: 99%

Sulfotransferase Ndst1 is Needed for Mandibular and TMJ Development

et al. 2010

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Heparan sulfate proteoglycans (HS-PGs) regulate several developmental processes, but their possible roles in mandibular and TMJ formation are largely unclear. To uncover such roles, we generated mice lacking Golgi-associated N-sulfotransferase 1 (Ndst1) that catalyzes sulfation of HS-PG glycosaminoglycan chains. Ndst1-null mouse embryos exhibited different degrees of phenotypic penetrance. Severely affected mutants lacked the temporomandibular joint and condyle, but had a mandibular remnant that displayed abnormal tooth germs, substandard angiogenesis, and enhanced apoptosis. In mildly affected mutants, the condylar growth plate was dysfunctional and exhibited thicker superficial and polymorphic cell zones, a much wider distribution of Indian hedgehog signaling activity, and ectopic ossification along its lateral border. Interestingly, mildly affected mutants also exhibited facial asymmetry resembling that seen in individuals with hemifacial microsomia. Our findings indicate that Ndst1-dependent HS sulfation is critical for mandibular and TMJ development and allows HS-PGs to exert their roles via regulation of Ihh signaling topography and action.

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“…Deformite 3500-4000 canlı doğumda bir ortaya çıkmaktadır (40,41). Hipoplazi 1. ve 2. brankial arklarda oluşan yapıların değişik şiddetteki gelişim yetersizliğinden kaynaklandığından klinik spectrum hayli geniştir (42,43).…”

Section: Pierre-robin Sekansıunclassified

Distraction Osteogenesis in Congenital Nonsyndromic Dentofacial Deformities

Konaş¹,

Tunçbi̇lek²

2016

Akd Med J

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ÖZKonjenital fasiyal deformiteler gerek mevcut deformite, gerekse deformitenin gelişim sürecindeki yansıması olarak görülebilmektedir. Gelişimsel sorunlar sıklıkla mandibula veya orta yüz bölgesinde maksilla gelişiminde beliren yetersizlik ve buna bağlı olarak çevre dokularda oluşan orantı problemleri ile kendisini göstermektedir. Gelişim geriliğinin en önemli nedenleri arasında yapılan onarım sonrası ortaya çıkan skarın kemik gelişimini engellemesi , kemiğin gelişim odağının deforme olması ve çevre yumuşak doku eksiklikleri sayılabilmektedir. Kemik augmentasyonunu gerektiren fasiyal konjenital deformiteler arasında; Pierre-Robin sekansı, dudak damak yarıklarına sekonder orta yüz gerilikleri, kraniofasiyal mikrozomi sayılabilir. Sözü edilen deformite spektrumu, klasik ortognatik cerrahi veya distraksiyon osteogenezi ile kemik yapının restorasyonu ve bunlara ek olarak yumuşak doku augmentasyonları ile rekonstrükte edilebilmektedir. Kemik doku restorasyonunda ilerletme olanaklarının daha fazla olması,yeni kemik elde edilebilmesi, serbest doku nakli gereksinimini azaltması ve daha stabil bir onarım imkanı sağlaması nedenleri ile distraksiyon osteogenezi son yılarda daha etkin bir tedavi yöntemi olarak görülmektedir.

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Otomandibular deformity: Pathogenesis as a guide to reconstruction

Cited by 148 publications

References 1 publication

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Sulfotransferase Ndst1 is Needed for Mandibular and TMJ Development

Distraction Osteogenesis in Congenital Nonsyndromic Dentofacial Deformities

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