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KMID : 0361720140250010009
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Korean Journal of perinatology
2014 Volume.25 No. 1 p.9 ~ p.16
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Neonatal Presentation and Follow-up of Goldenhar Syndrome
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Lee Myung-Sook
Park Jae-Hyun
Choi Soo-Young
Sung Se-In
Ahn So-Yoon
Yoo Hye-Soo
Park Won-Soon
Chang Yun-Sil
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Abstract
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Purpose: Expression patterns, associated anomalies and progress of the patients with Goldenhar syndrome from the neonatal period were systematically investigated. This allows us to evaluate the need for early diagnosis.
Methods: This is a retrospective study of 29 infants with Goldenhar syndrome whose diagnosed in Samsung Medical Center between 1994 and 2013. Associated anomalies and procedures between neonatal group (n=13) and non-neonatal group (n=16) were systematically compared.
Results: Mean gestational age in the neonatal group were 38+1±2+4 weeks and 3 patients (23%) were preterm infants. The average birth weight in the neonatal group were 2,853±544 grams. Goldenhar syndrome was mainly diagnosed by ear and face anomalies during the neonatal period. The associated anomalies in neonatal group were cardiovascular anomaly (54%), genitourinary anomaly (30%), vertebral anomaly (15%), and others (31 %). About 40% of patients who had long-term follow-up revealed hearing abnormalities and about 1/4 of all patients had bilateral hearing problem, which resulted in requiring hearing aid devices. In addition, the most common procedure performed during follow-up was preauricular skin tag removal. And other procedures or surgery related to oral, eyes, and others were performed in each 1/4 of the patients. Cardiac surgery was done in 15% of total patients. Frequency of associated anomalies and performed procedures between the patients diagnosed at neonatal and non-neonatal period was not significantly different.
Conclusion: A multidisciplinary approach should be undertaken by multi-departments when evaluating patients with Goldenhar syndrome. In particular if the patient has an ear anomaly, careful hearing test is required in early life.
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KEYWORD
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Goldenhar syndrome, Neonate, Hearing abnormality, Anomaly
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