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? )