Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye

Ghi, T.; Contro, E.; Carletti, A.; D’Emidio, Laura; Cera, E.; Morandi, Raffaella; Cocchi, Guido; Pilu, Gianluigi; Pelusi, G.

doi:10.1002/pd.1958

Cited by 7 publications

(5 citation statements)

References 10 publications

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“…In more severe cases, the prenatal diagnosis was suspected as early as 11 weeks of gestation . 3D ultrasound technology has been helpful in fetuses with suspected facial anomalies …”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

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Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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“…In more severe cases, the prenatal diagnosis was suspected as early as 11 weeks of gestation . 3D ultrasound technology has been helpful in fetuses with suspected facial anomalies …”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

“…139 3D ultrasound technology has been helpful in fetuses with suspected facial anomalies. 140,145 Diagnosis and recurrence risk…”

Section: Postnatal Phenotypementioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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“…La mayoría de los rasgos fenotípicos son ipsilaterales al lado afectado de la cara (3,9). La ecografía tridimensional es útil en la evaluación de la cara fetal (10). Los escasos informes que describen un diagnóstico ecográfico prenatal prospectivo están basados en el reconocimiento de microftalmia unilateral y/o hipoplasia hemifacial (4,11).…”

Section: Caso Clínicounclassified

“…En aproximadamente el 50 % de los casos, el SG es un indicador de alteraciones fetales más complejas que incluye cardiopatías congénitas, anomalías del sistema nervioso central, pulmonares o genitourinarias (10). Los defectos cardiacos congénitos están presentes en cerca de un tercio de los casos (12).…”

Section: Caso Clínicounclassified

Síndrome de Goldenhar. Reporte de un caso

Briceño-Sanabria¹,

Briceño-Sanabria²,

Briceño-Pérez³

2021

REVUM

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El síndrome de Goldenhar, o espectro óculo-aurículo-vertebral, es un síndrome congénito caracterizado por alteraciones en diferentes grados de las estructuras faciales. En ocasiones también existen alteraciones de la columna vertebral y otros defectos óseos, malformaciones cardíacas y anomalías del sistema nervioso central. Un aspecto importante es que, en la mayoría de los casos, estas lesiones son unilaterales. La causa es desconocida. El diagnóstico prenatal solo es posible mediante la identificación de alteraciones morfológicas, ya que no existen marcadores genéticos para el diagnóstico. La enfermedad no es mortal, pero las alteraciones cráneo-faciales graves pueden poner en peligro la vida en el periodo posnatal. El tratamiento consiste en cirugía plástica reconstructiva. Se presenta un caso de diagnóstico prenatal del síndrome de Goldenhar.

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“…A small number of previous publications regarding cases diagnosed with OAVS in the prenatal period reported gross facial and ocular malformations often associated with CNS anomalies, but none of them have described associated vertebral or rib anomalies in the fetus [6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

Haratz

Vinkler²,

Lev³

et al. 2011

Fetal Diagn Ther

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Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel’s deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a ‘golf ball’ sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

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Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye

Cited by 7 publications

References 10 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

Síndrome de Goldenhar. Reporte de un caso

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

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