Goldenhar
Syndrome
Associated With Submandibular Gland Hemihypoplasia of the Mobile Tongue Richard T.
Miyamoto, MD;
Ronald C.
Hamaker, MD; Raleigh E. Lingeman, MD
\s=b\ We report a case of Goldenhar syndrome with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. This association has not
been noted in the literature. A vascular
abnormality or hemorrhagic phenomenon occurring during embryogenesis have been proposed as an explanation for the spectrum of defects seen in this synCongenital hearing loss, when it occurs in Goldenhar syndrome, is usually unilateral and conductive in nature; how-
drome.
ever, inner ear defects may be more common than previously recognized.
(Arch Otolaryngol 102:313-314, 1976) triad of
congenital The consisting epibulbar dermoids, pretrapreauricular appendages,
anomalies
of
and described by Goldenhar1 in 1952. In 1963, Gorlin2 reported two new cases and reviewed 40 cases from the literature. During this study, he recognized the association of congenital anomalies of the vertebral column with the ocular and auricular lesions, and introduced the term "oculoauriculovertebral dysplasia" to delineate the major components of the
gal fistulas
was
syndrome.
We report the findings of submandibular gland hyperplasia and hemihypoplasia of the mobile tongue in a patient with Goldenhar syndrome. This association has not been noted in the literature. REPORT OF A CASE A 5-month-old girl with bilateral epibulbar dermoids, preauricular appendages, and facial asymmetry was evaluated because of an enlarging intraoral mass. The patient was the product of a pregnancy complicated by maternal abdominal
Accepted for publication Jan 16, 1976. From the Department of Otorhinolaryngology, Indiana University Medical Center, Indianapolis. Dr Miyamoto is currently with the Department of Otorhinolaryngology, March Air Force Base, Calif.
Reprint requests to the Department of Otorhi-
nolaryngology, Indiana University Medical Center, Riley A-56, 1100 W Michigan St, Indianapolis, IN 46202 (Dr Lingeman).
Hyperplasia and
trauma that necessitated multiple abdominal x-ray films at six-weeks' gestation.
The birth was uncomplicated. Physical examination demonstrated a facial asymmetry secondary to left malar and mandibular hypoplasia. Ophthalmologic examination demonstrated bilateral epibulbar dermoids (Fig 1), bilateral persistent pupillary membranes that covered the irides, and colobomas of the retina and choroid of the left eye. A 1\m=1/2\\m=x\1 \m=x\1 cm preauricular appendage with a prominent cartilaginous skeleton was present on the left side (Fig 2). The left external auditory canal was stenotic, and a tympanic membrane could not be visualized. A 1 \m=x\1\m=x\1 mm preauricular appendage was present on the right side. The right external auditory canal and tympanic membrane were normal. Intraoral examination demonstrated a soft, nontender 0.5 \m=x\2.0 \m=x\3.0 cm mass of the left side of the floor of mouth (Fig 3). The papilla of the left submandibular gland was located over the anterior margin of this mass. X-ray film examination of the face and skull confirmed the left-sided malar and mandibular hypoplasia. The left external auditory canal was noted to be hypoplastic, and the middle ear ossicles, although present on the left, were found to lie in a horizontal position nearly parallel to the lateral semicircular canal. There was poor development of the left attic and middle ear space (Fig 4). The left inner ear was radiographically normal. Polytomes of the right ear were normal. Hearing acuity by sound field audiometry was within normal limits. Detailed evaluation of the probable left-sided conductive hearing deficit will be performed at a later date. Because of the recent enlargement of the intraoral lesion, surgical intervention was elected. The submandibular duct, which was located on the anterior margin of the mass, was followed to the substance of the mass. The mass was excised in its entirety after a meticulous dissection to preserve the integrity of the lingual and hypoglossal nerves. Histopathologic evaluation of the mass demonstrated a hyperplastic salivary gland of mixed pattern with both serous and mucous elements. The left preauricular appendage was excised and a plastic repair
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/19/2015
performed at the time of the excision of the intraoral mass. Following the excision of the mass, a rather severe hypoplasia of the left side of the tongue was noted, which was not previously appreciated. In the postoperative period, the left side of the tongue has remained hypoplastic, but has retained normal motor function. was
COMMENT The
major diagnostic features of are epibulbar dermoids, preauricular appendages, and pretragal fistulas. Epibulbar dermoids in Goldenhar syndrome are usually bilateral and located at the limbus or corneal margin of the lower outer quadrant of the eye. Occasionally, lipodermoids are present in the upper outer quadrant. Preauricular appendages, usually multiple, are located anterior to the tragus along a line extending from the tragus to the angle of the mouth. Pretragal fistulas are frequently associated with the preauricular appendages. Other clinical findings seen in this syndrome population include unilateral hypoplasia of the mandible in 70% of patients, unilateral microtia in 50%, Goldenhar syndrome
atresia
or
stenosis of the external
auditory
meatus in 40%, and colobomas of the upper eyelid in 30%.3
Congenital hearing loss,
occurs as a
when it
component of Goldenhar
syndrome, is usually unilateral and primarily of the conductive type, secondary to atresia of the external auditory meatus, ossicular chain abnormalities, or both. Recently, however, several investigators have reported inner ear defects as well, indicating that maldevelopment of the otocyst may be
more
common
in
Goldenhar
syndrome than previously recognized.4-6 Arrested growth of the tongue has not been previously reported in a patient with Goldenhar syndrome. Lingual hemihypoplasia is, however, consistent with the other characteris-
Fig 1.—Bilateral epibulbar dermoids in most characteristic location at limbus or corneal margin in lower outer quadrant of eye. Note also hypoplasia of mandible on left. (Postoperative photo following exci¬ sion of intraoral mass and preauricular appendage on left side.)
Fig
2.—Preauricular
appendage
on
left
Fig
and
side.
3.—Mass of left side of floor of mouth hypoplastic left side of tongue.
identical twins.10 Chromo¬ studies have been normal,11 except in one case in which Goldenhar syndrome was present in association with the cri-du-chat syndrome.1"
sumably some
References
Fig 4.—Anteroposterior x-ray film demonstrating hypoplasia of left mandible. Note also hypoplasia of left external auditory canal and horizontal position of middle ear ossicles on
left. Vestibule and semicircular canals
tics of Goldenhar syndrome, since the tongue is largely derived from the first and second branchial arches. A vascular abnormality7 or hemorrhagic phenomenon obliterating tracts of differentiating tissues8 occurring dur¬ ing embryogenesis and affecting pri¬ marily the first and second branchial arches has been proposed as the inciting aberration leading to the development of the complex of anom¬ alies seen in Goldenhar syndrome. The cause of the submandibular gland hyperplasia seen in this case is
are
normal.
unknown. It is conceivable that the enlargement represented a compensa¬
tory hyperplasia secondary
to
hypo¬
of salivary tissue in other locations. This hypothesis is plausible in light of Work's" observa¬ tion that absence of the parotid gland may occur in the first and second branchial arch syndrome. As in the reported case, occurrences of Goldenhar syndrome have been sporadic, and there is little evidence of a hereditary pattern. The syndrome has in fact been seen in one of pre-
plasia or absence
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/19/2015
1. Goldenhar M: Associations malformations de l'oeil et de l'oereille, en particulier le syndrome dermoide epibulbaire-appendices auriculairesfistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1:243\x=req-\ 282, 1952. 2. Gorlin RJ: Oculoauriculovertebral dysplasia. J Pediatr 63:991-999, 1963. 3. Feingold M: Oculoauriculovertebral dysplasia, in Bergsma D (ed): Birth Defects Atlas and Compendium. Baltimore, Williams & Wilkins Co, 1973, p 679. 4. Kirkham TH: Goldenhar's syndrome with inner ear defects. J Laryngol Otol 84:855-857, 1970. 5. Rees DO, Collum LMT, Bowen DI: Radiological aspects of oculo-auriculo-vertebral dysplasia. Br J Radiol 45:15-18, 1972. 6. Budden SS, Robinson GC: Oculoauricular vertebral dysplasia. Am J Dis Child 125:431-433, 1973. 7. McKenzie J, Craig J: Mandibulo-facial dystosis. Arch Dis Child 30:391-395, 1955. 8. Poswillo DE: The pathogenesis of the first and second branchial arch syndrome. Oral Surg 35:302-328, 1973. 9. Work WP: Congenital malformations and trauma of the salivary glands, in Paparella MM, Shumrick DA (eds): Otolaryngology, Head and Neck. Philadelphia. WB Saunders Co, 1973, vol 3, p 254. 10. Bock RH: Ein Fall von epibulbaren Dermolipom mit Missbildungen einer Gesichtsh\l=a"\lfte.Diskordantes Vorkommen bei einem eineigen Zwillingspaar. Opthalmologica 122:86\x=req-\ 90, 1951. 11. Baum JL, Feingold M: Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250\x=req-\ 257, 1973. 12. Ladekarl S: Combination of Goldenhar's syndrome with cri-du-chat syndrome. Acta Ophthalmol 46:605, 1968.
Syndrome
Associated With Submandibular Gland Hemihypoplasia of the Mobile Tongue Richard T.
Miyamoto, MD;
Ronald C.
Hamaker, MD; Raleigh E. Lingeman, MD
\s=b\ We report a case of Goldenhar syndrome with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. This association has not
been noted in the literature. A vascular
abnormality or hemorrhagic phenomenon occurring during embryogenesis have been proposed as an explanation for the spectrum of defects seen in this synCongenital hearing loss, when it occurs in Goldenhar syndrome, is usually unilateral and conductive in nature; how-
drome.
ever, inner ear defects may be more common than previously recognized.
(Arch Otolaryngol 102:313-314, 1976) triad of
congenital The consisting epibulbar dermoids, pretrapreauricular appendages,
anomalies
of
and described by Goldenhar1 in 1952. In 1963, Gorlin2 reported two new cases and reviewed 40 cases from the literature. During this study, he recognized the association of congenital anomalies of the vertebral column with the ocular and auricular lesions, and introduced the term "oculoauriculovertebral dysplasia" to delineate the major components of the
gal fistulas
was
syndrome.
We report the findings of submandibular gland hyperplasia and hemihypoplasia of the mobile tongue in a patient with Goldenhar syndrome. This association has not been noted in the literature. REPORT OF A CASE A 5-month-old girl with bilateral epibulbar dermoids, preauricular appendages, and facial asymmetry was evaluated because of an enlarging intraoral mass. The patient was the product of a pregnancy complicated by maternal abdominal
Accepted for publication Jan 16, 1976. From the Department of Otorhinolaryngology, Indiana University Medical Center, Indianapolis. Dr Miyamoto is currently with the Department of Otorhinolaryngology, March Air Force Base, Calif.
Reprint requests to the Department of Otorhi-
nolaryngology, Indiana University Medical Center, Riley A-56, 1100 W Michigan St, Indianapolis, IN 46202 (Dr Lingeman).
Hyperplasia and
trauma that necessitated multiple abdominal x-ray films at six-weeks' gestation.
The birth was uncomplicated. Physical examination demonstrated a facial asymmetry secondary to left malar and mandibular hypoplasia. Ophthalmologic examination demonstrated bilateral epibulbar dermoids (Fig 1), bilateral persistent pupillary membranes that covered the irides, and colobomas of the retina and choroid of the left eye. A 1\m=1/2\\m=x\1 \m=x\1 cm preauricular appendage with a prominent cartilaginous skeleton was present on the left side (Fig 2). The left external auditory canal was stenotic, and a tympanic membrane could not be visualized. A 1 \m=x\1\m=x\1 mm preauricular appendage was present on the right side. The right external auditory canal and tympanic membrane were normal. Intraoral examination demonstrated a soft, nontender 0.5 \m=x\2.0 \m=x\3.0 cm mass of the left side of the floor of mouth (Fig 3). The papilla of the left submandibular gland was located over the anterior margin of this mass. X-ray film examination of the face and skull confirmed the left-sided malar and mandibular hypoplasia. The left external auditory canal was noted to be hypoplastic, and the middle ear ossicles, although present on the left, were found to lie in a horizontal position nearly parallel to the lateral semicircular canal. There was poor development of the left attic and middle ear space (Fig 4). The left inner ear was radiographically normal. Polytomes of the right ear were normal. Hearing acuity by sound field audiometry was within normal limits. Detailed evaluation of the probable left-sided conductive hearing deficit will be performed at a later date. Because of the recent enlargement of the intraoral lesion, surgical intervention was elected. The submandibular duct, which was located on the anterior margin of the mass, was followed to the substance of the mass. The mass was excised in its entirety after a meticulous dissection to preserve the integrity of the lingual and hypoglossal nerves. Histopathologic evaluation of the mass demonstrated a hyperplastic salivary gland of mixed pattern with both serous and mucous elements. The left preauricular appendage was excised and a plastic repair
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/19/2015
performed at the time of the excision of the intraoral mass. Following the excision of the mass, a rather severe hypoplasia of the left side of the tongue was noted, which was not previously appreciated. In the postoperative period, the left side of the tongue has remained hypoplastic, but has retained normal motor function. was
COMMENT The
major diagnostic features of are epibulbar dermoids, preauricular appendages, and pretragal fistulas. Epibulbar dermoids in Goldenhar syndrome are usually bilateral and located at the limbus or corneal margin of the lower outer quadrant of the eye. Occasionally, lipodermoids are present in the upper outer quadrant. Preauricular appendages, usually multiple, are located anterior to the tragus along a line extending from the tragus to the angle of the mouth. Pretragal fistulas are frequently associated with the preauricular appendages. Other clinical findings seen in this syndrome population include unilateral hypoplasia of the mandible in 70% of patients, unilateral microtia in 50%, Goldenhar syndrome
atresia
or
stenosis of the external
auditory
meatus in 40%, and colobomas of the upper eyelid in 30%.3
Congenital hearing loss,
occurs as a
when it
component of Goldenhar
syndrome, is usually unilateral and primarily of the conductive type, secondary to atresia of the external auditory meatus, ossicular chain abnormalities, or both. Recently, however, several investigators have reported inner ear defects as well, indicating that maldevelopment of the otocyst may be
more
common
in
Goldenhar
syndrome than previously recognized.4-6 Arrested growth of the tongue has not been previously reported in a patient with Goldenhar syndrome. Lingual hemihypoplasia is, however, consistent with the other characteris-
Fig 1.—Bilateral epibulbar dermoids in most characteristic location at limbus or corneal margin in lower outer quadrant of eye. Note also hypoplasia of mandible on left. (Postoperative photo following exci¬ sion of intraoral mass and preauricular appendage on left side.)
Fig
2.—Preauricular
appendage
on
left
Fig
and
side.
3.—Mass of left side of floor of mouth hypoplastic left side of tongue.
identical twins.10 Chromo¬ studies have been normal,11 except in one case in which Goldenhar syndrome was present in association with the cri-du-chat syndrome.1"
sumably some
References
Fig 4.—Anteroposterior x-ray film demonstrating hypoplasia of left mandible. Note also hypoplasia of left external auditory canal and horizontal position of middle ear ossicles on
left. Vestibule and semicircular canals
tics of Goldenhar syndrome, since the tongue is largely derived from the first and second branchial arches. A vascular abnormality7 or hemorrhagic phenomenon obliterating tracts of differentiating tissues8 occurring dur¬ ing embryogenesis and affecting pri¬ marily the first and second branchial arches has been proposed as the inciting aberration leading to the development of the complex of anom¬ alies seen in Goldenhar syndrome. The cause of the submandibular gland hyperplasia seen in this case is
are
normal.
unknown. It is conceivable that the enlargement represented a compensa¬
tory hyperplasia secondary
to
hypo¬
of salivary tissue in other locations. This hypothesis is plausible in light of Work's" observa¬ tion that absence of the parotid gland may occur in the first and second branchial arch syndrome. As in the reported case, occurrences of Goldenhar syndrome have been sporadic, and there is little evidence of a hereditary pattern. The syndrome has in fact been seen in one of pre-
plasia or absence
Downloaded From: http://archotol.jamanetwork.com/ by a University of Pennsylvania User on 06/19/2015
1. Goldenhar M: Associations malformations de l'oeil et de l'oereille, en particulier le syndrome dermoide epibulbaire-appendices auriculairesfistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1:243\x=req-\ 282, 1952. 2. Gorlin RJ: Oculoauriculovertebral dysplasia. J Pediatr 63:991-999, 1963. 3. Feingold M: Oculoauriculovertebral dysplasia, in Bergsma D (ed): Birth Defects Atlas and Compendium. Baltimore, Williams & Wilkins Co, 1973, p 679. 4. Kirkham TH: Goldenhar's syndrome with inner ear defects. J Laryngol Otol 84:855-857, 1970. 5. Rees DO, Collum LMT, Bowen DI: Radiological aspects of oculo-auriculo-vertebral dysplasia. Br J Radiol 45:15-18, 1972. 6. Budden SS, Robinson GC: Oculoauricular vertebral dysplasia. Am J Dis Child 125:431-433, 1973. 7. McKenzie J, Craig J: Mandibulo-facial dystosis. Arch Dis Child 30:391-395, 1955. 8. Poswillo DE: The pathogenesis of the first and second branchial arch syndrome. Oral Surg 35:302-328, 1973. 9. Work WP: Congenital malformations and trauma of the salivary glands, in Paparella MM, Shumrick DA (eds): Otolaryngology, Head and Neck. Philadelphia. WB Saunders Co, 1973, vol 3, p 254. 10. Bock RH: Ein Fall von epibulbaren Dermolipom mit Missbildungen einer Gesichtsh\l=a"\lfte.Diskordantes Vorkommen bei einem eineigen Zwillingspaar. Opthalmologica 122:86\x=req-\ 90, 1951. 11. Baum JL, Feingold M: Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250\x=req-\ 257, 1973. 12. Ladekarl S: Combination of Goldenhar's syndrome with cri-du-chat syndrome. Acta Ophthalmol 46:605, 1968.
