Neonatal Presentation and Follow-up of Goldenhar Syndrome / 대한주산의학회잡지
Korean Journal of Perinatology
; : 9-16, 2014.
Article
in Ko
| WPRIM
| ID: wpr-76050
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Skin
/
Thoracic Surgery
/
Birth Weight
/
Infant, Premature
/
Retrospective Studies
/
Follow-Up Studies
/
Gestational Age
/
Early Diagnosis
/
Ear
/
Goldenhar Syndrome
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Humans
/
Infant
/
Newborn
Language:
Ko
Journal:
Korean Journal of Perinatology
Year:
2014
Type:
Article