Neonatal Presentation and Follow-up of Goldenhar Syndrome.
- Author:
Myung Sook LEE
1
;
Jae Hyun PARK
;
Soo Young CHOI
;
Se In SUNG
;
So Yoon AHN
;
Hye Soo YOO
;
Won Soon PARK
;
Yun Sil CHANG
Author Information
- Publication Type:Original Article
- Keywords: Goldenhar syndrome; Neonate; Hearing abnormality; Anomaly
- MeSH: Birth Weight; Ear; Early Diagnosis; Follow-Up Studies*; Gestational Age; Goldenhar Syndrome*; Hearing; Hearing Aids; Hearing Tests; Humans; Infant; Infant, Newborn; Infant, Premature; Retrospective Studies; Skin; Thoracic Surgery
- From:Korean Journal of Perinatology 2014;25(1):9-16
- CountryRepublic of Korea
- Language:Korean
- Abstract: 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.
