Korean J Perinatol.  2014 Mar;25(1):9-16. 10.14734/kjp.2014.25.1.9.

Neonatal Presentation and Follow-up of Goldenhar Syndrome

• Lee MS
• Park JH
• Choi SY
• Sung SI
• Ahn SY
• Yoo HS
• Park WS
• Chang YS

• KMID: 1917227
• DOI: http://doi.org/10.14734/kjp.2014.25.1.9

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.

Keyword

Goldenhar syndrome; Neonate; Hearing abnormality; Anomaly

MeSH Terms

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

Figure

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  Fig. 1. A Goldenhar syndrome patient was diagnosed at neonatal period with prominent and multiple preauricular skin tags (arrows) (A), facial asymmetry with right facial hypoplasia (B). He was followed-up after preauricular skin tag removal in plastic surgery at 2 month of age (C).

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