2005
DOI: 10.1097/00019605-200501000-00006
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A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects

Abstract: We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental d… Show more

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Cited by 11 publications
(8 citation statements)
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“…Other features include unilateral or bilateral blepharoptosis, elevated orbit, clinical anophthalmia or microphthalmia, retinal abnormalities, Colobomas of the upper eyelid, iris, chorioidea, and retina, ocular motility disorders (esotropia, exotropia, duane syndrome),hypertelorism, microphthalmia, anophthalmia, cataract, antimongoloid obliquity of palpebral fissures, microcornea and congenital cystic eye. 17,[23][24][25][26][27] Facies -Unilateral macrostomia , Marked facial asymmetry, cleft lip, cleft palate 3 Ear -Anomalous pinnae are seen bilaterally. Supernumerary ear tags, unilateral and bilateral preauricular tags of skin and cartilage, along with blind fistulas and sinuses are extremely common.…”
Section: Discussionmentioning
confidence: 99%
“…Other features include unilateral or bilateral blepharoptosis, elevated orbit, clinical anophthalmia or microphthalmia, retinal abnormalities, Colobomas of the upper eyelid, iris, chorioidea, and retina, ocular motility disorders (esotropia, exotropia, duane syndrome),hypertelorism, microphthalmia, anophthalmia, cataract, antimongoloid obliquity of palpebral fissures, microcornea and congenital cystic eye. 17,[23][24][25][26][27] Facies -Unilateral macrostomia , Marked facial asymmetry, cleft lip, cleft palate 3 Ear -Anomalous pinnae are seen bilaterally. Supernumerary ear tags, unilateral and bilateral preauricular tags of skin and cartilage, along with blind fistulas and sinuses are extremely common.…”
Section: Discussionmentioning
confidence: 99%
“…Although most cases are thought to be sporadic, an autosomal dominant transmission has been clearly supported in a few reported families (Gorlin et al,2001). Recently the possibility of an X‐linked inheritance was also raised (Derbent et al,2005). However, the true etiology of the syndrome remains unclear.…”
Section: Introductionmentioning
confidence: 99%
“…However, the true etiology of the syndrome remains unclear. Chromosomal disorders (Gorlin et al,2001), vascular disruptive events, disturbances of blastogenesis, environmental factors, and abnormal neural crest and mesoderm interaction have all been suggested as possible etiologies (Araneta et al,1997; Abusheika et al,2000; Derbent et al,2005).…”
Section: Introductionmentioning
confidence: 99%
“…cromossômicas estruturais observadas em indivíduos com o fenótipo do EOAV foram: deleção do braço curto do cromossomo 5(Dyggve e Mikkelsen 1965, Neu et al 1982, Choong et al 2003, Descartes et al 2006, Ala-Mello et al 2008; deleção do braço longo dos cromossomos6,8, 12, 18 e 22 (Greenberg et al 1987, Townes e White 1978, Rooryck et al 2009, Curran et al 1970, Greenberg et al 1987, Herman et al 1988, Derbent et al 2003, Xu et al 2008, Digilio et al 2009, Lafay-Counsin 2009); duplicação do braço longo dos cromossomos 7 e 22 (Hoo et al 1982, Herman et al 1988, Hathout et al 1998); anel do cromossomo 21 (Greenberg et al 1987); inversão pericêntrica do cromossomo 1 (Stahl-Mauge et al 1982); inversão pericêntrica do cromossomo 9 (Stanojevic et al 2000); inversão pericêntrica do cromossomo 14 (Northup et al 2010) e rearranjo do cromossomo 18 (Sujansky et al 1981). Alterações cromossômicas, tais como deleção do braço longo do cromossomo 5, trissomia do cromossomo 18, duplicação do braço longo do cromossomo 7 e deleção do braço curto do cromossomo 22, detectadas em vários indivíduos, são consideradas significativas, podendo representar uma associação causal (Cohen et al 1989, Heike e Hing 2009, Passos-Bueno 2009).…”
unclassified
“…Os autores sugeriram que esta combinação de achados poderia representar uma nova síndrome dentro do EOAV, ou então, uma expansão deste. Outra, possível nova síndrome dentro do EOAV foi sugerida porDerbent et al (2005) ao descreverem um menino, filho de casal consangüíneo que, além das manifestações do EOAV, apresentava cardiopatia complexa. O fato de existirem relatos prévios com este padrão de anomalias, apenas em meninos, levou os autores a considerarem a possibilidade de .000 nascimentos e, segundo, estudos deMelnick (1980), esta foi de 1:26.550 nascimentos.…”
unclassified