The Roentgenological Aspects of Goldenhar's Syndrome (Oculoauriculovertebral Dysplasia)

Abstract

Oculoauriculovertebral dysplasia is a syndrome involving the eye and eyelids, ear, mandible, facial bones, and vertebrae. The initial case was described by von Arlt (26) in 1845. In 1963 the total number of recorded cases was brought to 42 by the report of 2 cases by Gorlin (10), who suggested the term oculoauriculovertebral dysplasia as a descriptive name for this entity, which is also known as Goldenhar's syndrome. His review of the literature covered in detail the systemic manifestations of the disease. Although significant roentgenographic abnormalities occur, to our knowledge there has been no description of the findings in the radiologic literature. We have had the opportunity to examine six patients with this syndrome seen at the Boston Floating Hospital of the New England Medical Center Hospitals. Four of these patients have been described in a recent article by Berkman and Feingold (2). Two additional cases are presented, and the findings in all six cases are summarized in Table I. Case Reports D. D. R., a 21-day-old male infant, was referred to the Boston Floating Hospital for Infants and Children for evaluation of ear tags on the left and a dermoid of the left eye. The 34-year-old gravida I, Para 1 mother had had a normal pregnancy except for fluid retention during the last two months of pregnancy which was treated with “fluid pills.” She also received iron tablets and vitamin pills. Delivery was normal, and the birth weight was seven pounds. There were no problems during the newborn period, and the infant was discharged at five days of age. Since then the child has had no difficulties. Family history is noncontributory. At birth the following abnormalities were observed: three preauricular skin tags, an epibulbar dermoid encroaching on the outer, lower quadrant of the left iris, and slight hypoplasia of the left mandible. The remainder of the physical examination was within normal limits. P. J. L., a 2 1∕2-year-old white female, was referred to the Boston Floating Hospital for Infants and Children for evaluation of Goldenhar's syndrome. She was the product of a normal pregnancy to a 26-year-old gravida V, Para 5 white female. Delivery was normal, and birth weight was 7 lb., 14 oz. Significant in the family history is that a paternal grandmother reportedly has bilateral dermoids of the eyes. The patient's growth and development have been normal. At birth the following physical findings were present: skin tags located on the right side in the preauricular area and at the angle of the mouth and on the left side between the tragus and the angle of the mouth; bilateral epibulbar dermoids located on the outer, middle quadrant of the iris; and large, posteriorly placed left ear with a thin helix. The skin tags were removed on the third day of life. The patient had no other problems during the newborn period an d was discharged at five days of age.