Dysmorphic Child

The Dysmorphic Child
AN ORTHOPEDIC PERSPECTIVE

Michael J. Goldberg, M.D.

Professor of Orthopedic Surgery
Tufts University School of Medicine
Boston, Massachusetts

ASYMMETRY OF THE FACE

Goldenhar Syndrome: Oculoauriculovertebral Dysplasia

It has been suggested that the characteristic asymmetrical malformations of the face, the eye, and the ear were first recorded by the nineteenth-century German physician Carl Ferdinand von ArIt, but it took until 1952 for French ophthalmologist Maurice Goldenhar (see special note at bottom) to review this subject and focus attention on the three clinical targets of this syndrome: (1)epibulbar dermoids of the eye, (2) preauricular skin tags, and (3) vertebral anomalies.

For the geographic dysmorphologist, this clinical entity became known as Oculoauriculovertebral dysplasia, but for those faithful to epynoms: the Goldenhar syndrome. A clear definition of this syndrome is difficult to come by. The anomalies of the eye, ear, and spine vary in severity, and in addition, malformations of the heart and viscera as well as other skeletal defects may be present in some patients. Thus, the issue noted in other sections of this book is heard once again: Is it one disorder with a broad phenotype, or several distinct disorders? For example, hypoplasia of half the mandible and malformation of that ear has been called hemifacial microsomia. When in addition there are defects of the eye, the vertebrae, the heart, and the radius, it is called Goldenhar Syndrome. Although these two conditions are separated in Table 5.2, it is acknowledged that patients are encountered who have various combinations and transitional forms, which lends credence to the idea that both conditions derive from a similar error in morphogenesis.

Although the precise incidence of Goldenhar syndrome is not known, it is certainly not rare; estimates range from 1 in every 3,000 to 1 in every 5,000 live births. A patient with this syndrome will be found in almost every busy scoliosis clinic. The facial, eye, and ear anomalies are unilateral 85% of the time, but even in those where the abnormalities are bilateral, their severity is markedly asymmetric.

The classic eye pathology is a dermoid of the conjunctiva. Known as an epibulbar dermoid, it appears as a yellow or milky-white soft nodule usually located in the lower outer quadrant of the globe. An absence of a portion of the upper lid (a coloboma) occurs almost as frequently and represents a potential hazard to the unprotected exposed cornea.

The ear is abnormal in size or shape and can be completely absent or simply a bit crumpled. Various malformations of the external canal and middle- or inner ear structures may lead to variable degrees of deafness, a problem in almost half the patients. Multiple, fleshy, preauricular tags and blind pits are found along a line drawn from the tragus to the corner of the mouth. These skin tags are, for practical purposes, present in every patient with Goldenhar syndrome and are often
bilateral.

In spite of these rather specific abnormalities of the eye and ear, what first draws attention to the face is its rather striking asymmetry. On one side, the underlying skeleton is hypoplastic. There is a specific and invariable underdevelopment of the ascending ramus of the mandible. The muscle and overlying soft tissue are atrophic as well, which adds further to the facial asymmetry. The maxilla and the zygoma may be poorly developed as well.

In some patients, a horizontal cleft extends from the corner of the mouth toward the flattened cheek. A disturbed swallowing mechanism may lead to feeding disorders in infancy. Dental malocclusion is the rule, and orthodontists and oral and plastic surgeons may all play a role in the construction of an attractive face.

The facial configuration is somewhat reminiscent of Trencher Collins (mandibulofacial dysostosis). However, that autosomal dominant syndrome affects both sides of the face symmetrically and lacks both the ocular dermoids and the vertebral malformations.

For the orthopedic surgeon, the most important component of Goldenhar Syndrome is the vertebral malformations. These may be located anywhere along the spine but show a marked predilection for the lower cervical and upper thoracic vertebrae. Hemivertebrae predominate; they may be single or multiple, may be balanced or unbalanced, and when vertebrae are carefully counted, may reflect either an increased or decreased number of segments. It is common to find vertebrae that are longitudinally split in the midline, the defect appearing either in the posterior elements or in the vertebral body itself. Far less frequent are vertebral fusions or block vertebrae; when present they are almost always in the cervical spine. The anomalies in this syndrome are those of configuration rather than of failed segmentation, a helpful radiographic clue in separating Goldenhar
from Klippel-Feil.

The impression that one gets from a perusal of the nonorthopedic literature is that these vertebral abnormalities are merely asymptomatic roentgenographic curiosities. This is hardly the case, and
the need for careful monitoring of patients with Goldenhar syndrome has been sorely neglected.

At least half will have a clinically detectable scoliosis. Most often it will be centered at the cervico-thoracic junction, but pure thoracic, thoracolumbar, and double major curves may occur as well. Curve progression happens regularly, although a numerical risk factor can not be stated with any certainty. Clearly, most curves are congenital in origin, but an idiopathic pattern may be found below the cervico-thoracic anomalies, and that curve may become the more important.

Once progression begins, management may be a problem. The cervico-thoracic curve is too high for the use of an underarm spinal orthosis. Although the curve may occasionally be controlled by a
standard Milwaukee brace, its negative effect on the growth of the mandible a mandible already severely deformed in this syndrome makes its use relatively contraindicated. When curve progression is established, early spinal fusion is recommended.

Intubation at the time of anesthesia can be difficult because of the combination of a small, asymmetrical jaw, limited neck motion, and a deviated trachea; the latter is a consequence of the cervical thoracic scoliosis. A distorted face is a reliable guide to the potential of airway problems, and preparation for tracheostomy should be at hand.

A curious array of other vertebral malformations occur in addition to the more common hemi and split vertebrae. These include, at the cranial end, occipitalization of the atlas and an elongated odontoid and at the caudal end: lumbarization of sacral 1. Far more important, however, is
the regular appearance of neural tube defects at the base of the skull or in the upper cervical spine. The surgeon must be alert for an encephalocele or a hidden myelocele. Brain anomalies are
frequently associated with such closure defects at the cranio-cervical junction. Although less common, lumbar myelomeningocele and sacral agenesis may be seen in children with Goldenhar syndrome.

As might be expected in patients with congenital malformations of the vertebrae, a wide assortment of rib anomalies occur as well. Rib fusions, cervical ribs, and unequal rib numbers on right and left sides, owing either to supernumerary or to absent partners, have been noted. In addition, Sprengel deformity, an absent clavicle, and absence of the sternocleidomastoid and trapezius muscles may occur in some patients; these malformations contribute significantly to the deformed head- neck- shoulder angle.

Outside the axial skeleton, the most important problem is radial club hand. The precise relationship between Goldenhar syndrome, the VATER association, and radial ray dysplasia remains to be clarified. There are certain patients who show all the features of the VATER association and who also have the characteristic face, eve, and ear anomalies of the Goldenhar syndrome. Conversely, these same patients are the ones with all the features of the Goldenhar syndrome and in addition the radial ray dysplasia and the gastrointestinal and cardiac malformations of the VATER association.
Thus it can be said that patients with either of these two "syndromes" may exhibit features of the other. However, when viewed from the perspective of the Goldenhar patient, those children who have radial ray dysplasia are far sicker and more dysmorphic than the typical child with oculoauriculovertebral dysplasia. Their lumbar vertebrae are often malformed, structural errors abound throughout the visceral organs, and in a number, chromosome analysis will yield mosaics or other aberrations.

Other orthopedic deformities noted with Goldenhar syndrome include clubfeet, congenitally dislocated hip, and polydactyly.

Cardiac anomalies are common with ventricular septal defect and tetralogy of Fallot accounting for most. Pulmonary malformations, ranging from incomplete lobulation to an entirely hypoplastic lung, occur commonly as well and are invariably found on the same side as the facial deformity. Because
children with such malformations are more likely to be reported, it is difficult to know the exact incidence.

Similarly, the frequency of intellectual retardation varies from 10% to 25%, depending on the author. From a practical standpoint, those children with encephalocele, with severe microophthalmia, or with malformations not traditionally seen in the Goldenhar syndrome have a severe risk for mental retardation, a fact that should enter into orthopedic and plastic surgical treatment decisions.

The etiology of Goldenhar syndrome remains unknown. Furthermore, there is no general agreement regarding what, if any, recurrence risk exists for the parents with one affected child. Although it was once considered an entirely sporadic event with essentially no chance for recurrence, similar but milder anomalies have now been noted to occur in the families of affected children, suggesting a possible genetic contribution.

In summary, it is important that the orthopedic surgeon be aware that children with facial asymmetry may have significant anomalies in their cervical and upper thoracic spine. It is just as important for those most likely to see such a child early dentists, dysmorphologists, and plastic surgeons to make a prompt orthopedic referral. Whenever evaluating the child with congenital scoliosis, a careful look at the face, the eyes. and the ears is in order. A diagnosis of Goldenhar
syndrome requires that the entire spine be evaluated, as the congenital anomalies may go beyond the cervico-thoracic region.

Special Note:

Maurice Goldenhar
American physician, born 1924; died September 11, 2001.
Maurice Goldenhar emigrated from Belgium to the United States of America in 1940. After the war he returned to Europe for medical studies, and then returned to the United States. He was a general practitioner who practiced in the U.S. all of his life. The "Maurice Goldenhar Family Medicine Update", Stony Brook University Hospital, State University of New York, is named in his honour.

Goldenhar's work of 1952 was his medical thesis at the University of Geneva. This explains why he is often referred to as a "Swiss ophthalmologist".

We thank Susan Pachter, Goldenhar's niece, Francine Goldenhar, his daughter, and Patrick Jucker-Kupper, Switzerland, for information submitted. ( Information gathered from Who Named It? )