Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Ventricular septal defect

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.


合計: 3

                       


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PMID (PMCID)
22834469
 FEMALE Infant, Newborn
Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine.
Char DS, Gipp M, Boltz MG, Williams GD.
Paediatr Anaesth. 2012;22(9):932-4.
We report the challenging case of a 1-week-old, term, 2.4 kg neonate with Goldenhar syndrome (including microcephaly, left microtia, left facial palsy, dextro-scoliosis of the cervical spine, and cervico-thoracic levoscoliosis), multiple ventricular septal defects, a type B interrupted aortic arch, a large patent ductus arteriosis, and radiographic and clinical signs concerning for an unstable cervical spine.
22834469
 FEMALE Infant, Newborn
Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine.
Char DS, Gipp M, Boltz MG, Williams GD.
Paediatr Anaesth. 2012;22(9):932-4.
Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine.
9082789
 MIXED_SAMPLE Child
Sleep apnea associated with congenital diseases and moderate hypertrophy of tonsils.
Suzuki K, Yamamoto S, Ito Y, Baba S.
Acta Otolaryngol Suppl. 1996;523:225-7.
The first patient was a 4-year-old girl with Fallot's tetralogy, the second was a 6-year-old girl with Goldenhar syndrome and ventricular septal defect, aortic stenosis and patent ductus arteriosus, and the third was a 3-year-old boy with cerebral palsy and epilepsy.