Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Tasse, Christiane; Böhringer, Stefan; Fischer, Sven; Lüdecke, Hermann‐Josef; Albrecht, Beate; Horn, Denise; Janecke, Andreas R.; Kling, Rainer; König, Rainer; Lorenz, Birgit; Majewski, F.; Maeyens, Elisabeth; Meinecke, Peter; Mitulla, Beate; Mohr, Christopher; Preischl, Monika; Umstadt, H. E.; Kohlhase, Jürgen; Gillessen‐Kaesbach, Gabriele; Wieczorek, Dagmar

doi:10.1016/j.ejmg.2005.04.015

Cited by 190 publications

(327 citation statements)

References 37 publications

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“…Eye abnormalities in Goldenhar syndrome include anophthalmia, microphthalmia, eyelid and iris coloboma, epibulbar limbal dermoids, strabismus, and retinal abnormalities [1,4,5,15,16].Our patient presented a right orbit reduced in size, microphthalmia with annular calcification in the right eye.…”

Section: Discussionmentioning

confidence: 98%

“…In the literature, there are case reports of Goldenhar syndrome associated with such oral malformations as micrognathia, macrostomia, cleft lip, cleft palate and fissured tongue [1,2,4,15,19]. Dental anomalies are represented by delayed tooth eruption, supernumerary teeth, and malocclusion.…”

Section: Discussionmentioning

confidence: 99%

“…This abnormality is associated with hypoplasia of facial muscles and is reported in 65-75% of cases [6,15,20]. The clinical facial aspect of Goldenhar syndrome patients is described as "hemifacial microsomia" , most frequently affecting the right side of the face [6,15].…”

Section: Discussionmentioning

confidence: 99%

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Goldenhar Syndrome

Costea

2015

J Clin Res Ophthalmol

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Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-years-old male patient. There are no other identified cases of congenital diseases in the patient's family history. At the age of 2, the patient was operated for complete right cleft lip and cleft palate dehiscence and it was then, that the suspicion for Goldenhar syndrome was harboured.The Goldenhar Syndrome diagnosis is clinical, as there are no specific genetic tests to detect this condition. The patient's karyotype was performed in the Genetics Clinic in order to order to exclude an eventual chromosomal abnormality. The result had been normal (46, XY).The ophthalmologic examination revealed the microphthalmia of the right eyeball. The ENT exam revealed facial dysmorphism, malformation of the right auricular pavilion with atresia of the external auditory canal and right nasal fossa malformation with deviated septum. The CT examination revealed a right orbit reduced in size, the right eyeball reduced in size with numerous annular calcifications, cleft lip and cleft palate, the area of the bone defect being occupied by soft tissue; flawed implanted dystrophic teeth; hypoplasia of the vertical and horizontal branch of the mandible; absence of the tympanic bone and the right external auditory canal; internal auditory canals, present semicircular ducts and complex vertebral malformations. Being a rare syndrome with many defects, early diagnosis is important, in order to apply appropriate treatment.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

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Goldenhar Syndrome

Costea

2015

J Clin Res Ophthalmol

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“…Apesar de o nosso primeiro paciente mostrasse vários achados similares aos da maioria dos casos da síndrome de (6) , Fraccaro et al (5) , Schinzel et al (7) , Balci et al (11) , Toyoshima et al (4) e Carter et al (9) ; † Baseado em Tasse et al (15) , Ström-land et al (14) e Engiz et al (16) .…”

Section: Discussionunclassified

“…Havia microssomia hemifacial e microtia assimétrica, em adição a fossetas e apêndices pré-auriculares, anomalia de costela e polegares proximalmente implantados, achados do espectro óculo-aurículo-vertebral (1,14,15) . Essa é uma condição complexa e etiologicamente heterogênea, caracterizada por anormalidades dos arcos branquiais que envolvem especialmente a face, olhos, orelhas e vértebras.…”

Section: Referências Bibliográficasunclassified

Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

Rosa¹,

Pfeil

Zen³

et al. 2010

Rev. paul. pediatr.

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RESUMOObjetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(22) t(11;22), secundária a translocações balanceadas familiares, apresentando fenótipos distintos.Descrição dos casos: O primeiro paciente é uma menina branca de cinco anos de idade, apresentando hipotonia, atraso no desenvolvimento neuropsicomotor, movimentos estereotipados, microcefalia, ptose palpebral, orelhas proeminentes, fossetas e apêndices pré-auriculares, e imperfuração anal. As avaliações adicionais identificaram hipoplasia cerebral e estenose da válvula pulmonar. Possuía história também de laringotraqueomalácia e fenda palatina. O segundo paciente é um menino branco de seis meses de idade com hipotonia, movimentos coreoatetóticos, déficit de crescimento, microcefalia, microssomia hemifacial, fenda palatina, microtia, apêndices pré-auriculares e polegares proximalmente implantados. A ecocardiografia demonstrou estenose da válvula pulmonar, comunicação interatrial e interventricular, persistência do canal arterial e da veia cava superior esquerda. A radiografia de tórax identificou uma costela cervical. O cariótipo por bandas GTG mostrou a presença, em ambos os pacientes, de um cromossomo adicional der(22)t(11;22), secundário a uma translocação balanceada materna no primeiro caso e paterna no segundo caso.Comentários: Apesar de a primeira paciente apresentar achados frequentes da SE, o caso adicional representa a segunda descrição da literatura com um fenótipo de espectro óculo-aurículo-vertebral (EOAV). Assim, ambos salientam a variabilidade clínica observada na SE e a importância da avaliação cariotípica em indivíduos com fenótipo de EOAV.Palavras-chave: translocação genética; aberrações cromossômicas; fenótipo; síndrome de Goldenhar; aconselhamento genético. ABSTRACT Objective:To report two patients with Emanuel syndrome (ES) or supernumerary chromosome der(22)t(11;22), secondary to familial balanced translocations, presenting distinct phenotypes.Cases description: The first patient was a five-year-old white girl presenting hypotonia, neuropsychomotor delay, stereotypic movements, microcephaly, ptosis, prominent ears, preauricular pits with skin tag, and imperforate anus. Additional evaluations identified cerebral hypoplasia and pulmonar valvar stenosis. She also had laryngotracheomalacia and cleft palate. The second patient was a six months white boy with hypotonia, choreoatetotic movements, growth retardation, microcephaly, hemifacial microsomia,

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