Asian Cardiovasc Thorac Ann 2002;10:267-269
© 2002 Asia Publishing EXchange Pte Ltd
Goldenhar’s Syndrome
Özcan Özdemir, MD,
Kemal Arda, MD1,
Hasan Turhan, MD,
Özgür Tosun, MD1
Department of Cardiology
1 Department of Radiology Türkiye Yüksek  htisas HospitalAnkara, Turkey
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For reprint information contact: Kemal Arda, MD Tel: 90 312 481 0150 Fax: 90 312 312 4122 email: kemalarda{at}yahoo.com Ilker 1. Cadde 14/2, Dikmen, Ankara 06460, Turkey.
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ABSTRACT
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A 12-year-old male was admitted with postaxial polydactyly on the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry. Investigations confirmed the diagnosis of a congenital disease, Goldenhar’s syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance.
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INTRODUCTION
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It is well known that congenital malformations may be multiple, so the discovery of one should lead to the search for others in the same patient. Many combinations of anomalies have been grouped into recognized syndromes. Establishing these syndromes emphasizes the fact that seemingly different malformations may be related and should be considered as a unit, and it also assists diagnosis. Analysis of similar cases may lead to the discovery of the etiology of the disorders and perhaps to prevention when the pathogenesis is better understood.
Postaxial (lateral) polydactyly is the most common hand malformation and has been associated with over 40 abnormalities. Abnormalities of the heart and the musculoskeletal system are associated with a number of syndromes, including Ellis-van Creveld, Marfan, trisomies 13, 18, and 21, Fanconi aplastic anemia, thrombocytopenia with absent radius, thalidomide syndrome, LaurenceMoon-Bardet-Biedl, Smith-Lemli-Opitz, Holt-Oram, Goldenhar’s, and VATER association. Goldenhar’s syndrome is a congenital disease with ipsilateral deformity of the ear and face, epibulbar dermoids or lipodermoids, upper eyelid colobomas, microphthalmia, preauricular appendages, pretragal blind-ended fistulas, and vertebral anomalies. The presence of polydactyly and presumptive autosomal dominant inheritance, which are rare associations, prompted us to report this case.
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CASE REPORT
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The patient was a 12-year-old male, 31 kg in weight and 144 cm in height. He was the 7th child of an unconsanguineous family. He had facial asymmetry (Figure 1
) with a depressed nasal bridge and a nodule on the right tragus. Interestingly, his paternal grandfather had similar features. The patient had pectus excavatum and scoliosis, as well as lateral polydactyly on the right hand (Figure 2). A grade 3/6 pansystolic murmur over the left sternal border with an accompanying thrill was heard on cardiac auscultation. Districhiasis and strabismus (esotropia of the right eye) were noted. Radiographs showed fusion defect at the 3rd thoracic vertebra (Figure 3), osseous lateral polydactyly of the right hand, and malformation of the ramus and condyles of the mandible. Abdominal ultrasound examination was normal. Echocardiography revealed a large inlet ventricular septal defect (VSD) extending to the subaortic region. Contrast study showed a passage between the ventricles and a slight passage between the atria. Cardiac catheterization was performed, and the pressures measured are reported in Table 1. Oxygen saturation increased by 7% at the atrial level and by 16% at the ventricular level. Shunting ratio was 5, and pulmonary vascular resistance was 600 dyneásec-1•cm-5. These findings indicated a VSD, an atrial septal defect (ASD), and severe pulmonary hypertension. The patient was attending primary school and was not a successful student. His speech was normal, but his parents refused a detailed audiometric examination.
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DISCUSSION
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Goldenhar’s syndrome, also known as oculo-auriculovertebral (OAV) spectrum, first and second branchial arch syndrome, or facioauriculovertebral spectrum, is associated with various abnormalities. Different combinations of clinical anomalies associated with this syndrome have been given different names. Two of these are OAV dysplasia, in which vertebral anomalies are always present, and hemifacial microsomia, in which microtia, macrostomia, and malformation of the ramus and condyles of the mandible are characteristic.1
OAV dysplasia is the most frequently presenting subcategory of the Goldenhar-like conditions, with an incidence of 1 per 3,500 to 5,000 live births.2 Although most cases are sporadic, families manifesting autosomal dominant and recessive traits have been described, with evidence that the latter is more frequently characterized by eye abnormalities.3 A pericentric inversion of chromosome 2 with break points at p11 and q13 was reported in a premature newborn with OAV spectrum and some associated anomalies.4 Since the grandfather of our patient also had a nodule on the right tragus and facial asymmetry, autosomal dominant inheritance is implicated. The presence of the nodule in the family may be explained by incomplete penetrance.
Our patient had facial asymmetry, vertebral anomaly, an undeveloped preauricular nodule (skin tag), and congenital heart disease, but he did not have any eye anomalies associated with this syndrome.
Vertebral anomalies have been shown in 40% to 60% of cases diagnosed as Goldenhar’s syndrome.5 Failure of segmentation is the most common abnormality present in the neck region, and failure of formation most frequently occurs in the upper thoracic spine. A unilateral hemivertebra in the upper thoracic region can lead to shoulder elevation if spinal fusion is delayed.5 Our patient had a fusion anomaly at the 3rd thoracic vertebra.
Congenital heart diseases are seen in 40% to 60% of patients with Goldenhar’s syndrome, especially VSD, ASD, patent ductus arteriosus (PDA), tetralogy of Fallot, and coarctation of the aorta.6 A large VSD and ASD were shown in our patient by echocardiography and cardiac catheterization. Some rare cardiovascular malformations also have been reported, as in a 54-year-old woman with OAV spectrum whose cardiovascular malformations included Wolff-Parkinson-White syndrome, a partial anomalous origin of the coronary arteries, and a right-sided descending aorta.7
Goldenhar’s syndrome has been associated with congenital hearing defects, almost always of a conductive origin but in some cases may also be sensorineural. These defects result from malformations in the ear.8 A high incidence of structural and functional abnormalities of the pharynx and larynx has been found associated with OAV syndrome, and these anomalies may contribute to an increased risk of airway obstruction, communication impairment, and morbidity. In addition, frontonasal malformation has been reported occurring together with OAV spectrum, and the condition has been named oculoauriculofrontonasal syndrome. This malformation results from abnormal morphogenesis of the frontonasal eminence.
Our patient had lateral polydactyly on the right hand. Many syndromes of congenital heart disease are associated with extremity abnormalities. The most well known of these is Holt-Oram syndrome, in which ASD, VSD, endocardial cushion defect, coarctation of the aorta, PDA, and skeletal malformations mostly affecting the upper extremities have been reported. This syndrome is inherited through an autosomal dominant gene with variable expressivity. Both cardiac and skeletal malformations show varying severity among the members of a family. There was no strong family history in our patient to suggest this syndrome.
Polydactyly of fingers with bilateral involvement (and sometimes toes) is always present in Ellis-van Creveld syndrome. This complex autosomal recessive inherited dysplasia is associated with ectodermal anomalies affecting the hair, teeth, and nails, as well as a congenital heart defect in half the patients. The bones of the skull, vertebrae, and pelvis are all normal. Our patient had unilateral polydactyly, vertebral and cranial abnormalities, and no ectodermal anomalies, thus ruling out this condition.
Carpenter syndrome is an autosomal recessive inherited disorder characterized by craniosynostosis, preaxial polydactyly of the feet, variable soft tissue syndactyly, displacement of the patella, genua valga, mental retardation, and congenital heart disease, frequently including PDA, VSD, and pulmonary stenosis. Laurence-Moon-Bardet-Biedl syndrome is an autosomal recessive inherited disorder characterized by hypo-gonadism, obesity, polydactyly, retinitis pigmentosa, mental retardation, and cardiac malformations such as PDA, transposition of the great arteries, pulmonary stenosis, and VSD. The VATER association is commonly observed with abnormalities of the vertebrae, heart, trachea, esophagus, kidneys, anus, and limbs, including polydactyly. Some of the main characteristics of these 3 disorders were not found in our patient, hence these conditions were also excluded.
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REFERENCES
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- Smith DW. Facio-auriculovertebral spectrum. In: Smith’s recognizable patterns of human malformation. 4th ed. Philadelphia: Saunders, 1988:584–7.
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- Scholtz AW, Fish JH III, Kammen-Jolly K, Ichiki H, Hussl B, Kreczy A, et al. Goldenhar’s syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol
2001;22:501–5.[Medline]
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ABSTRACT
INTRODUCTION
