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Lee, Park, Choi, Sung, Ahn, Yoo, Park, and Chang: Neonatal Presentation and Follow-up of Goldenhar Syndrome
Original Article

Korean J Perinatol 2014;25(1):9-16.

Published online: 21 March 2014

DOI: https://doi.org/10.14734/kjp.2014.25.1.9

Neonatal Presentation and Follow-up of Goldenhar Syndrome

Myung Sook Lee, M.D., Jae Hyun Park, M.D., Soo Young Choi, M.D., Se In Sung, M.D., So Yoon Ahn, M.D., Hye Soo Yoo, M.D., Won Soon Park, M.D., Yun Sil Chang, M.D.

Department of Pediatrics, Samsung Medical Center, College of Medicine, Sungkyunkwan University, Seoul, Korea

Received 23 February 201426 February 2014       Accepted 26 February 2014

Copyright © 2014 Korean Society of Perinatology

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Goldenhar syndrome, Neonate, Hearing abnormality, Anomaly

REFERENCES

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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).
kjp-25-9-f1.tif
Table 1.
Prenatal and Postnatal Characteristics of the Enrolled Cases Diagnosed in the Neonatal Period
Neonatal group (n=13)
Gestational age (weeks)
Mean 38+1±2+4
Post term 3 (23%)
Preterm 3 (23%)
Birth weight (g)
Mean 2,853±544
SGA 1 (8%)
Male 10 (77%)
Cesarean-section delivery 7 (54%)
Twin 2 (15%)
Family history of Goldenhar syndrome 0 (0%)
Inborn 7 (54%)

SGA, small for gestational age

Table 2.
Comparison of Associated Anomalies between Enrolled Patients Diagnosed in the Neonatal Period (n=13) and Patients Diagnosed in the Non-neonatal Period (n=16)
Systemic anomalies Neonatal (n=13) Non-neonatal (n=16)
Face 6 (46%) 7 (44%)
Hypoplasia of malar, maxillary or mandibular region 3 (23%) 4 (25%)
Asymmetry 3 (23%) 6 (38%)
Ear* 13 (100%) 11 (69%)
Microtia and dysmorphy 7 (54%) 8 (50%)
Tag and pit* 9 (69%) 4 (25%)
Inner anomaly 2 (15%) 1 (6%)
Oral 5 (38%) 3 (19%)
Anomalies in tongue 1 (8%) 1 (6%)
Cleft lip and palate 2 (15%) 2 (13%)
High arched palate 3 (23%) -
Eye 5 (38%) 6 (38%)
Corneal dermoid 2 (15%) 3 (19%)
Ptosis 2 (15%) 2 (13%)
Upper eye lid anomalies 1 (8%) -
coloboma - 1 (6%)
Strabismus - 2 (13%)
Vertebral 2 (15%) 3 (19%)
Hemivertebrae 1 (8%) 1 (6%)
Sacral agenesis 1 (8%) -
Scoliosis, rib, femur and tibia anomaly - 2 (13%)
Central nervous system - 4 (25%)
Cardiac 7 (54%) 3 (19%)
ASD 4 (31%) 2 (13%)
PDA 5 (38%) 1 (6%)
VSD 1 (8%) 2 (13%)
TOF - 1 (6%)
Genitourinary 4 (31%) 1 (6%)
Pelviectasia 3 (23%) -
Cryptochidism 1 (8%) -
Renal agenisis - 1 (6%)
Others 4 (31%) 1 (6%)
Esophageal atresia 1 (8%) -
Polydactily 1 (8%) -
Imperforated anus 2 (15%) -
CDH - 1 (6%)
Hearing abnormality 5 (38%) 7 (44%)

ASD, atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect; TOF, tetralogy of fallot; CDH, congenital diaphragmatic hernia

* P<0.05, there were significant differences between two groups.

Table 3.
Associated Anomalies of the Enrolled Cases Diagnosed in the Neonatal Period (n=13)
Case GA BW Face Ear Eye Cardiac Oral Reenal Others Hearing test
Hypoplasia, asymmetry Microtia, dysmorphy Tag pit Inner anomaly Corneal dermoid Ptosis Upper-lid anomaly ASD PDA VSD Cleft palate, lip High arched, palate Tongu anomaly
1 38+2 2,810 - - U - - - - - - - - - - - - - U
2 40+1 2,970 - U - - + - - + - - - - - - + -
3 41 3,150 + + - - - - + - - + - - - - + - B
4 36+2 2,570 + + U - - - - - - + - - + - + + -
5 37 2,170 + - U - - - - - + + - - - - - - -
6 33+3 2,425 - + - - - - - - - - - - - + - - -
7 34+2 2,000 - + B - - - - - - - - - - - + - -
8 38+5 2,625 - - B - - + - - + + - - - - - + -
9 38+2 3,170 + - U - + - - - + + - - - - + + -
10 41+2 3,840 - + - - - - - - - - - - + - - - -
11 37+2 2,480 - + U - + - - - - - + + - - - - U
12 38 3,580 + - U + - - - + - - - + + - - - B
13 42 3,300 + + - + - - + - - - - - - - - - B

GA, gestational age (weeks); BW, birth weight (g); ASD, atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect; U, unilateral abnormality; B, bilateral abnormality

Table 4.
Hearing Outcomes between Patients Diagnosed at Neonatal Period (n=13) and Diagnosed at Non-neonatal Period (n=16)
Neonatal group (n=13) Non-neonatal group (n=16)
Hearing abnormality 5 (38%) 7 (44%)
Unilateral abnormality 2 (15%) 3 (19%)
Bilateral abnormality 3 (23%) 4 (25%)
Follow up Hearing aid at 2 patients* Cochlear implant at 1 patient

* 1 patient was not followed up, but was expected to need hearing aid due to significant bilateral hearing abnormality

Table 5.
Comparison of Performed Surgical Procedures During Follow up between Patients Diagnosed at Neonatal Period (n=13) and Patients Diagnosed at Non-neonatal Period (n=16)
Surgical procedures Neonatal group (n=13) Non-neonatal group (n=16)
Ear 4 (31%) 3 (19%)
Preauricular skin tag excision 4 (31%) 1 (6%)
Cochlear implant - 1 (6%)
Ear reconstruction - 1 (6%)
Face - 1 (6%)
Two jaw operation and TDAP dermoadipofacial FF - 1 (6%)
Oral 3 (23%) 2 (13%)
Frenulotomy 1 (8%) -
Palatoplasty 2 (15%) -
Commissuroplasty - 2 (13%)
Vertebral anomaly operation - 1 (6%)
Eye 3 (23%) 4 (25%)
Dermoid excision 1 (8%) 1 (6%)
Upper eye lid repair 2 (15%) 1 (6%)
Keratoplasty 1 (8%) 2 (13%)
Cardiac 2 (15%) 2 (13%)
PDA ligation 1 (8%) 1 (6%)
VSD closure 1 (8%) -
TOF total correction - 1 (6%)
Genitourinary 1 (8%) -
Orchiopexy 1 (8%) -
Others 3 (23%) 3 (19%)
TEF repair 1 (8%) -
Polydactily operation 1 (8%) 1 (6%)
Anoplasty 1 (8%) -
CDH repair - 1 (6%)
Tracheostomy - 1 (6%)

TDAP, thoracodosal artery perforator; FF, free flap; PDA, patent ductus arteriosus; VSD, ventricular septal defect; TOF, tetralogy of fallot; TEF, trachea-esophageal fistula; CDH, congenital diaphragmatic hernia

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