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Goldenhar's Syndrome: A case study
J. COMMUN. DISORD. 18 (1985), 383-392
GOLDENHAR’S
SYNDROME: A CASE STUDY
PATRICIA BELENCHIA Clarksdale
Speech
and Hearing
Center
PEGGY McCARDLE Walter Reed Army Medical
Center
Goldenhar’s Syndrome, a rare symptom complex involving craniofacial and vertebral malformations, is reviewed and a detailed case history of a 19-mo-old exhibiting the syndrome is described. This multiple-problem child exhibited a 6-mo deficit in communication skills at 12 mo of age. After 6 mo of participation in a multidisciplinary early intervention program, including speech-language therapy, the child exhibits normal language although he has articulation problems consistent with his craniofacial defects.
Goldenhar’s syndrome is a rare symptom complex involving craniofacial and vertebral malformations with associated renal and cardiac defects (Mathog and Leonard, 1980). The first description of Goldenhar’s syndrome was possibly made by VonArld in 1845 (Gorlin et al., 1974; cited in Mathog et al., 1980). This syndrome was first distinguished from other congenital anomalies of the first and second branchial arch by Goldenhar in 1952 (Parving, 1978). Gorlin et al. (1974; cited in Miyamoto et al., 1976) reviewed over 40 cases from the literature and reported two new cases. They recognized the relation of congenital vertebral malformation with ocular and auricular lesions, and thus introduced the term “oculoauriculovertebral dysplasia” to represent the major components of the syndrome. The purposes of this paper are to provide a review of the literature and a case study of a 19 month old infant with Goldenhar’s syndrome. REVIEW OF LITERATURE Incidence Because Goldenhar’s syndrome is rare, the true incidence is unknown (Mathog and Leonard, 1980; Parving, 1980). Since other syndromes exist Address correspondence to Peggy McCardle, Exceptional Family Member Program, Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307-5001. 0 1985 by Elsevier Science Publishing Co., Inc. 52 Vanderbilt Ave., New York, NY 10017
383 002 l-9924/85/$03.30
384 with similiar characteristics, ficult (Mathog et al., 1980).
P. EELENCHIA
specific classification
and P. McCARDLE
of cases remains dif-
Etiology Controversy exists in the literature concerning the cause of Goldenhar’s syndrome. While some researchers advocate a nonhereditary congenital explanation, others believe there is a hereditary pattern. Mathog et al. (1980) feel that existing evidence indicates that Goldenhar’s syndrome is a variant of hemifacial microsomia; they therefore consider it a nonhereditary congenital disorder. In 1958, McKenzie (Mathog et al., 1980) proposed the possibility of a stapedial artery abnormality causing embryonic failure as an explanation of the syndrome’s etiology. A theory of mesodermal deficiency has been offered by Starks and Saunders (1962; cited in Mathog et al., 1980). The most popular theory suggests that a vascular abnormality or hemorrhage in the area of the first and second branchial arch may cause defects in the developing embryo (Poswillo, 1974; cited in Mathog et al., 1980; Northern et al., 1974). Poswillo reproduced hemifacial-like deficits in monkeys with thalidomide and similar defects in mice with triazine. In these laboratory studies, the drugs caused hematoma formation in embryos, and destruction of differentiating mesenthyme tissue. Additional anomalies were noticed in the vertebrae and ribs in animals treated with triazine. The occurrence of Goldenhar’s syndrome has been sporadic and little evidence of a hereditary pattern has been found (Miyamoto et al., 1976). Although the hereditary pattern is still uncertain, Summitt in 1968 (Parving, 1978) described familial Goldenhar’s syndrome. Parving (1978) identified a family in which oculoauriculovertebral dysplasia was inherited as an autosomal dominant trait with incomplete penetrance and variable phenotypic manifestations. Progressive hearing loss and facial palsy were exhibited by this family. Klein (Longacre, 1968) views oculoauriculo dysplasia as a genetic variant of mandibulofacial dysostosis because they have been noted to coexist in several cases. Chromosome studies have been normal except in one case associated with cri du chat syndrome (Miyamoto et al., 1976). Clinical Features Specific deficits of the eyes involve cysts on the eyeballs and fissures of the upper lid in 30%60% of the patients (Mathog et al., 1980; Miyamoto et al., 1976). Other common ocular defects include extraocular muscular defects and antimongoloid slant (Northern et al., 1974 and 1978). Atresia or stenosis of the external auditory meatus is exhibited in 40% of the cases while 50% exhibit unilateral microtia. The incidence of a
GOLDENHAR’S
SYNDROME
385
unilateral conductive hearing loss due to atresia of the auricle or external ear canal is 40%-50% in most cases. Other significant auricular defects include auricular appendices, unilateral posteriorly placed ear, and blindended fistulas (Miyamoto et al., 1976; Northern et al., 1974 and 1978). The major oral structure deformity is unilateral hypoplasia of the ramus and condyle, which occurs in 70% of the patients (Miyamoto et al., 1976). Varying degrees of underdevelopment of the temporal, malar, and maxillary bones have been identified. Other oral structure defects include a high-vaulted palate and open bite (Mathog et al., 1980; Northern et al., 1974 and 1978). The severity of facial anomalies varies. Common vertebral malformations include hemivertebrae, synostosis of the vertebrae, supernumerary vertebrae, spina bifida, and scoliosis. Talipes equinovarus (club foot), renal anomalies, and congenital heart defects have also been features of the syndrome. Mental retardation is rare and when exhibited is usually mild (Mathog et al., 1980; Northern et al., 1974, 1978; Sparks, 1984). Several case studies in the literature report additional features seen in children with Goldenhar’s syndrome, documenting individual variations of this syndrome. Submandibular hyperplasia and hemihypoplasia of the mobile tongue were noted in one case (Miyamoto et al.-, 1976). The cause of submandibular hyperplasia was unknown. However, the hemiplasia of the tongue can be explained in that the tongue is mainly derived from the first and second branchial arch. Clefts of the lip and palate, accessory spleen, bilobed right lung, and syndactyly of the second and third toes on both feet were present in another case reported by Spector (1976). The muscles of mastication may be hypoplastic and the facial nerve and parotid gland may not develop as a result of insufficient soft tissues associated with poor development of the bony structures (Mathog et al., 1980). Absence of the parotid gland may occur because of the nature of the syndrome involving the first and second arch (Miyamoto et al., 1976). Ossicular chain malformation has also been noted in a few cases (Miyamoto et al., 1976). Recently, Kirkham (1970) and Budden and Robinson (1973; both cited in Parving, 1978) have reported a sensorineural hearing loss as a result of inner ear defects. Parving (1978) proposed the possibility of an early-onset inherited progressive hearing loss. These additional features have been observed in some cases but are not considered to be consistent. Differential Diagnosis The literature emphasizes the need for careful differential diagnosis of Goldenhar’s syndrome from hemifacial microsomia and mandibulofacial dysostosis (Treacher-Collins, Berry, etc.) (Mathog et al,., 1980). The variants of hemifacial microsomia are usually sporadic without a definite
P. BELENCHIA
386
and P. McCARDLE
hereditary basis. Goldenhar can be distinguished by varying degrees of vertebral and cardiac defects (Mathog et al., 1980). Sparks (1984) reported that Treacher-Collins and Goldenhar demonstrate the same phenotype. Mandibulofacial dysostosis, however, exhibits a well-defined genetic pattern and is transmitted in an irregular dominant fashion, and the features of Treacher-Collins syndrome are most frequently present bilaterally, whereas in Goldenhar’s syndrome the malformations are usually unilateral (Mathog et al., 1980). Management
and Intervention
Because of the multiple anomalies present in children with Goldenhar’s syndrome, an interdisciplinary team approach is necessary for appropriate overall management. Indirect and direct therapy should be initiated as early as possible. Parental counseling is important for providing information and support. Parents need to be aware of vertebral malformations, cardiac defects, and renal problems (Mathog et al., 1980). Referrals for appropriate surgical management of the impaired structures will be needed in order to improve their appearance and functionality. Since these children demonstrate deficits of the oral structure, dental management and good dental hygiene should be discussed. As stated, mental retardation is not common in this syndrome. Therefore, the parents need to be aware that their child will most likely have normal intelligence (Mathog et al., 1980). Speech and language disorders have not been studied or reported in the literature. However, because of the conductive hearing loss and oral defects, the parents should anticipate an articulation disorder. Intensive and consistent speech and language therapy should be implemented in order to stimulate speech and language development. Indirect therapy should provide the parents with suggested stimulatory activities to do at home with their child. CASE STUDY George, a IPmo-old ambulatory male, was initially diagnosed with Goldenhar’s syndrome at a children’s hospital in Tennessee. The physical features that led to the diagnosis of Goldenhar’s syndrome were microtia and mild hemifacial microsomia, cleft lip (see Figure l), and vertebral anomalies, which included butterfly vertebral body in the midthoracic area with some cervical ribs and anal stenosis. He remained in the hospital for 1 mo after birth and was discharged with the diagnosis of Goldenhar’s syndrome, dysplasia of the right ear (see Figure 2), bilateral vesicoureteral reflux, and focal interventricular and periventricular hemorrhages. George was the second child of triplets. One sibling died at 17 days of age due to aspiration pneumonia. The other died of sudden infant death
Figure 1.
George at 9 mo of age, prior to surgical repair of incomplete cleft of
lip. syndrome (SIDS) at age 3 mo. Since that time George has been on a home apnea monitor. George was born at 8 mo gestation and delivered via Cesarean section. His birthweight was 4 lb 1 oz. His mother was a 22-yr-old who had been under a physician’s care for anemia and toxemia during pregnancy and was maintained on Ritodrine, a drug to inhibit premature labor, from the seventh month of pregnancy. Family history was negative for multiple births and congenital anomalies. Hydrocephalus was noted when George was 5 mo old. At 8 mo, he was readmitted to the hospital for fever, rash, and evaluation of hydrocephalus. A CT scan revealed cranial and facial asymmetry consistent with Goldenhar’s syndrome, and right frontal and temporal cortical atrophy. The hydrocephalus was felt to have arrested. George was evaluated by an interdisciplinary diagnostic team in Mississippi in September 1983, at 1 yr of age. Results of a speech-language
388
P. BELENCHIA
and P. McCARDLE
Figure 2. George
at 19 mo of age; note dysplasia
of right ear.
Figure 3. George skills.
at 19 mo of age. demonstrating
appropriate
motor
and social
GOLDENHAR’S
SYNDROME
389
evaluation indicated significant delay in overall language development, with performance of 4-5-mo age level on the Receptive-Expressive Emergent Language Scale (REEL) (Bzoch and League, 1970). His receptive language age was 6-7 mo while his expressive language was 23 mo. On the Wisconsin Behavior Rating Scale (WBRS) (Song and Jones, 1979) George performed at an 8-mo level for receptive language and at a 6-mo level for expressive language. George’s mother reported that he visually tracked objects at 6 mo, reached for objects at 7 mo, turned his head toward voices at 8 mo, and cooed, after lip repair, at 10 mo. She initially reported feeding difficulties due to his cleft lip, submucous cleft, and gastroesophageal reflux. However, since lip repair, and with successful control of the gastroesophageal reflux, feeding has become less difficult. During the evaluation, George consistently responded to speech by turning his head toward the speaker, momentarily ceasing activity, and/ or cooing or laughing responsively. He reportedly responded to “no” and appeared to recognize a few familiar words (mama, daddy, ball, bottle, bye-bye, and no). He also followed simple verbal commands given with gestural or physical promptings. He vocalized randomly and in response to verbal stimulation. Vocalization consisted of /A/ with varied loudness, repetitive productions of /DA/, and reportedly an ocassional /m/ sound. George did not imitate specific vowels or consonant sounds during vocal play with the mother or examiner. The mother stated that his vocalizations have increased since the lip repair in August 1983. His voice was hypernasal with audible nasal emission due to velopharyngeal insufficiency. George exhibited age-appropriate functional play with toys within physical limitations, along with emerging motor imitation skills, such as waving “bye-bye,” shaking his head “no-no,” and attempting to wind up a jackin-the-box. Audiological testing was performed in a controlled sound field. George responded to his name at 15 dB hearing level (HL), a 1500-Hz warbled tone presented at 20 dB HL, and a bell at 30 dB HL. Because of rightear atresia these responses were assumed to be representative of the left ear. George has been enrolled in an early intervention program at a center in Mississippi since January 1984. After 4 mo of language therapy, George was reevaluated. The REEL (Bozch et al., 1970) was readministered. Test results revealed an overall language age of 20-mo, which is a month above his age. The WBRS (Song et al., 1979) was also readministered with test results revealing a receptive language age of 26 mo and an expressive language age of 21 mo. His behavioral age was 22.4 mo. The Preschool Language Scale (PLS) (Zimmerman, Steiner, and Pond, 1976) was administered. Results indicated an auditory comprehensive age of 30 mo and a verbal ability age of 20 mo. It should be noted that for expressive language, approximations of words were accepted.
390
P. BELENCHIA
and P. McCARDLE
Pragmatically, George uses language appropriately. He requests, comments, and initiates communicative interactions. Phonologically, George exhibited significant progress over the earlier evaluation. He produced various vowels and the consonants /k, g, 0, n, b, m, w/. George is difficult for the uninitiated listener to comprehend due to his hypernasality and nasal emission, but intelligibility should improve with surgical intervention for velopharyngeal incompetence and submucous cleft. In summary, at 19 mo of age (see Figure 3), George exhibited normal language performance but with articulatory problems due to the presence of craniofacial anomalies. He has made significant progress since age 12 mo, at which time his language skills had been significantly delayed. George’s case is illustrative of two important points. Mental retardation in Goldenhar’s syndrome is rare; in spite of George’s initial lags in development, this gave his parents reason to hope for significant progress. This case also demonstrates the value of a parent-centered early intervention program. SUMMARY Goldenhar’s syndrome is a rare symptom complex involving deformities of the eye, ear, and vertebrae with assqciated renal and cardiac defects. First described by Goldenhar in 1952 (Parving, 1978), the major features consist of occular anomalies, atresia or stenosis of the external auditory meatus, auricular appendices, hypoplasia of the mandible, hemivertebrae, and congenital heart disease. Mental retardation is rare (Mathog, et al., 1980; Northern et al., 1974 and 1978). The true etiology is controversial. Most evidence supports a nonhereditary basis because of the variation of hemifacial microsomia seen in this syndrome (Mathog et al., 1980), but some support for an autosomal dominant trait with incomplete penetrance comes from reports of familial Goldenhar’s syndrome by Summitt in 1962 (cited in Parving, 1978) and later by Parving in 1978. Confusion still exists in specitic classification of some cases .because other first and second branchial arch syndromes have similar features as Goldenhar (Mathog et al., 1980). Because of this confusion it is important to differentially diagnose Goldenhar’s syndrome so that parent counseling can begin and prognosis can be made. Parent counseling is necessary for providing information about surgical repair, expectations, and other associated problems that may be present or appear later. Since mental retardation is not common, the parents need to be aware that their child may have normal intelligence (Mathog et al., 1980). Knowledge of such a possibility can be an important motivating factor for parents, whose role in early intervention is critical.
GOLDENHAR’S
SYNDROME
The effect of hearing loss and oral structure deformities on speech and language acquisition should be discussed. Although the literature has not reported articulation or language problems in this syndrome, one should suspect an articulation disorder due to these concomitant factors. For appropriate management a team approach is needed for improving appearance, functionality of impaired -structures, speech and language development, and promoting normal growth and development of the total child. Involvement of family in the activities of the team is of utmost importance. Parents who understand the rationale behind the various therapies will often participate more willingly and comfortably in the therapy process, implementing all-important home programs. We have described the case of a 19-mo-old male, the sole survivor of triplets, who exhibits Goldenhar’s syndrome. His progress from delayed language at 12 mo of age to normal language abilities at 19 mo illustrates the value of an interdisciplinary team approach joined with parent-centered therapy. It is important to document cases such as George’s to provide reference information on communication development and disorders among children with various syndromes, and to document the success of various therapy approaches with these children. The assumption that communication disorders do not exist among such populations simply because there is little or no literature on the subject is an invalid one. Additional case studies and longitudinal data on the development of communication in children with specific syndromes would be a valuable addition to the literature in the tield. The authors wish to acknowledge the cooperation of the staff of the early intervention project at the North Mississippi Retardation Center, and of George’s mother, whose boundless energy and undying enthusiasm contributed significantly to the intervention program for her son. Her eagerness to help other children by sharing information on her son is inspiring to us all.
REFERENCES Bzoch, K., and League, R. (1970). Receptive-Expressive Scale (REEL).
Budden,
Baltimore:
S. S., and Robinson,
University
Emergent
Language
vertebral
dysplasia.
Park Press.
G. S. (1973). Oculoauricular
Am. J. Disord. Children 125:431.
Goldenhar, M. (1952). Associations malformations de 1’ oeil et de I’oreille en particulier le’ syndrome dermoide epibulbaire, appendices auriculaires, fistula auris congenita et ses, relations avec la dysostose mandibulofaciale. J. Genet. Hum.
1:243.
Gorlin, R. J., Jue, K. L., Jacobsen, U., and Goldschmidt, loauriculovertebral dysplasia. J. Pediatrics 63:991. Kirkham, T. H. (1970). Goldenhar’s Otol. 841855.
H. E. (1963). Ocu-
syndrome with inner ear defects. J. Laryngol.
392
P. BELENCHIA
Klein, D. (1968). Genetic factors and classification rived from a perturbation of the first branchial Cruniofucial Anomalies: Parhogenesis and Lippincott . Longacre, J. J. (1968). Craniofilcial adelphia: J. B. Lippincott. Mathog, R. H., and Leonard, syndrome. The Latyngoscope
Anomalies:
and P. McCARDLE
of craniofacial anomalies dearch. In J. J. Longacre (ed.), Repair. Philadelphia: J. B. Palhogenesis
M. S. (1980). Surgical 90: 1I3 J- I 147.
and Repair.
correction
Phil-
of Goldenhar’s
R. E. (1976). Goldenhar’s Miyamoto, R. T.. Hamaker, R. C.. and Lingeman. syndrome: Association with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. Arch. Otolatyngol. 102:313-314. McKenzie,
J. (1958). The first arch syndrome.
Arch.
Dis. Child. 433477-486.
Northern, J. L., and Downs, liams and Wilkins.
M. P. (1974). Hearing
in Children.
Baltimore:
Wil-
Northern, J. L., and Downs, liams and Wilkins.
M. P. (1978). Hearing
in Children.
Baltimore:
Wil-
Parving, A. (1978). Audiol. 7:lOl-103.
Progressive
hearing
Poswillo. D. ( 1974). The pathogenesis Surg. 35:302-328.
loss in Goldenhar’s
of the first and second
Poswillo, D. ( 1974). Otomandibular deformity: struction. J. Maxillofircial Sttrg. 2:64-72.
Pathogenesis
syndrome.
Scrr&.
arch syndrome.
Orul
as a guide to recon-
Song, A., and Jones, S. ( 1979). Wiswnsitt Behn~kr Rmring Scale ( WBRS). Central Madison: Central Wisconsin Center for the Developmentally Disabled. Sparks, S. N. (1984). Birth Lkfi~crs Diego: College Hill Press. Spector, neural
rmd Speech
(tttd Language
G. J. (1976). Histopathologic and experimental deafness. Ann. Otol., Rhinol., atzd Luryngol.
Disorders.
San
models for sensory 85:802-g 12.
and
Stark, R. G.. and Saunders, D. E. (1967). The first branchial syndrome: mandibular-auricular syndrome. PInstir, Recottstr. Sttrg. 29:229-239. Summitt,
R. L. (1969). Familial
Zimmerman. 1. L.. Steiner, Scale (PLS). Columbu\:
Goldenhar’s
V. G.. and Pond, Bell and Howell.
syndrome.
Birth Ikfi’crs
R. E. (1979). Preschool
the oral5:106. Ltrttguuge
GOLDENHAR’S
SYNDROME: A CASE STUDY
PATRICIA BELENCHIA Clarksdale
Speech
and Hearing
Center
PEGGY McCARDLE Walter Reed Army Medical
Center
Goldenhar’s Syndrome, a rare symptom complex involving craniofacial and vertebral malformations, is reviewed and a detailed case history of a 19-mo-old exhibiting the syndrome is described. This multiple-problem child exhibited a 6-mo deficit in communication skills at 12 mo of age. After 6 mo of participation in a multidisciplinary early intervention program, including speech-language therapy, the child exhibits normal language although he has articulation problems consistent with his craniofacial defects.
Goldenhar’s syndrome is a rare symptom complex involving craniofacial and vertebral malformations with associated renal and cardiac defects (Mathog and Leonard, 1980). The first description of Goldenhar’s syndrome was possibly made by VonArld in 1845 (Gorlin et al., 1974; cited in Mathog et al., 1980). This syndrome was first distinguished from other congenital anomalies of the first and second branchial arch by Goldenhar in 1952 (Parving, 1978). Gorlin et al. (1974; cited in Miyamoto et al., 1976) reviewed over 40 cases from the literature and reported two new cases. They recognized the relation of congenital vertebral malformation with ocular and auricular lesions, and thus introduced the term “oculoauriculovertebral dysplasia” to represent the major components of the syndrome. The purposes of this paper are to provide a review of the literature and a case study of a 19 month old infant with Goldenhar’s syndrome. REVIEW OF LITERATURE Incidence Because Goldenhar’s syndrome is rare, the true incidence is unknown (Mathog and Leonard, 1980; Parving, 1980). Since other syndromes exist Address correspondence to Peggy McCardle, Exceptional Family Member Program, Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307-5001. 0 1985 by Elsevier Science Publishing Co., Inc. 52 Vanderbilt Ave., New York, NY 10017
383 002 l-9924/85/$03.30
384 with similiar characteristics, ficult (Mathog et al., 1980).
P. EELENCHIA
specific classification
and P. McCARDLE
of cases remains dif-
Etiology Controversy exists in the literature concerning the cause of Goldenhar’s syndrome. While some researchers advocate a nonhereditary congenital explanation, others believe there is a hereditary pattern. Mathog et al. (1980) feel that existing evidence indicates that Goldenhar’s syndrome is a variant of hemifacial microsomia; they therefore consider it a nonhereditary congenital disorder. In 1958, McKenzie (Mathog et al., 1980) proposed the possibility of a stapedial artery abnormality causing embryonic failure as an explanation of the syndrome’s etiology. A theory of mesodermal deficiency has been offered by Starks and Saunders (1962; cited in Mathog et al., 1980). The most popular theory suggests that a vascular abnormality or hemorrhage in the area of the first and second branchial arch may cause defects in the developing embryo (Poswillo, 1974; cited in Mathog et al., 1980; Northern et al., 1974). Poswillo reproduced hemifacial-like deficits in monkeys with thalidomide and similar defects in mice with triazine. In these laboratory studies, the drugs caused hematoma formation in embryos, and destruction of differentiating mesenthyme tissue. Additional anomalies were noticed in the vertebrae and ribs in animals treated with triazine. The occurrence of Goldenhar’s syndrome has been sporadic and little evidence of a hereditary pattern has been found (Miyamoto et al., 1976). Although the hereditary pattern is still uncertain, Summitt in 1968 (Parving, 1978) described familial Goldenhar’s syndrome. Parving (1978) identified a family in which oculoauriculovertebral dysplasia was inherited as an autosomal dominant trait with incomplete penetrance and variable phenotypic manifestations. Progressive hearing loss and facial palsy were exhibited by this family. Klein (Longacre, 1968) views oculoauriculo dysplasia as a genetic variant of mandibulofacial dysostosis because they have been noted to coexist in several cases. Chromosome studies have been normal except in one case associated with cri du chat syndrome (Miyamoto et al., 1976). Clinical Features Specific deficits of the eyes involve cysts on the eyeballs and fissures of the upper lid in 30%60% of the patients (Mathog et al., 1980; Miyamoto et al., 1976). Other common ocular defects include extraocular muscular defects and antimongoloid slant (Northern et al., 1974 and 1978). Atresia or stenosis of the external auditory meatus is exhibited in 40% of the cases while 50% exhibit unilateral microtia. The incidence of a
GOLDENHAR’S
SYNDROME
385
unilateral conductive hearing loss due to atresia of the auricle or external ear canal is 40%-50% in most cases. Other significant auricular defects include auricular appendices, unilateral posteriorly placed ear, and blindended fistulas (Miyamoto et al., 1976; Northern et al., 1974 and 1978). The major oral structure deformity is unilateral hypoplasia of the ramus and condyle, which occurs in 70% of the patients (Miyamoto et al., 1976). Varying degrees of underdevelopment of the temporal, malar, and maxillary bones have been identified. Other oral structure defects include a high-vaulted palate and open bite (Mathog et al., 1980; Northern et al., 1974 and 1978). The severity of facial anomalies varies. Common vertebral malformations include hemivertebrae, synostosis of the vertebrae, supernumerary vertebrae, spina bifida, and scoliosis. Talipes equinovarus (club foot), renal anomalies, and congenital heart defects have also been features of the syndrome. Mental retardation is rare and when exhibited is usually mild (Mathog et al., 1980; Northern et al., 1974, 1978; Sparks, 1984). Several case studies in the literature report additional features seen in children with Goldenhar’s syndrome, documenting individual variations of this syndrome. Submandibular hyperplasia and hemihypoplasia of the mobile tongue were noted in one case (Miyamoto et al.-, 1976). The cause of submandibular hyperplasia was unknown. However, the hemiplasia of the tongue can be explained in that the tongue is mainly derived from the first and second branchial arch. Clefts of the lip and palate, accessory spleen, bilobed right lung, and syndactyly of the second and third toes on both feet were present in another case reported by Spector (1976). The muscles of mastication may be hypoplastic and the facial nerve and parotid gland may not develop as a result of insufficient soft tissues associated with poor development of the bony structures (Mathog et al., 1980). Absence of the parotid gland may occur because of the nature of the syndrome involving the first and second arch (Miyamoto et al., 1976). Ossicular chain malformation has also been noted in a few cases (Miyamoto et al., 1976). Recently, Kirkham (1970) and Budden and Robinson (1973; both cited in Parving, 1978) have reported a sensorineural hearing loss as a result of inner ear defects. Parving (1978) proposed the possibility of an early-onset inherited progressive hearing loss. These additional features have been observed in some cases but are not considered to be consistent. Differential Diagnosis The literature emphasizes the need for careful differential diagnosis of Goldenhar’s syndrome from hemifacial microsomia and mandibulofacial dysostosis (Treacher-Collins, Berry, etc.) (Mathog et al,., 1980). The variants of hemifacial microsomia are usually sporadic without a definite
P. BELENCHIA
386
and P. McCARDLE
hereditary basis. Goldenhar can be distinguished by varying degrees of vertebral and cardiac defects (Mathog et al., 1980). Sparks (1984) reported that Treacher-Collins and Goldenhar demonstrate the same phenotype. Mandibulofacial dysostosis, however, exhibits a well-defined genetic pattern and is transmitted in an irregular dominant fashion, and the features of Treacher-Collins syndrome are most frequently present bilaterally, whereas in Goldenhar’s syndrome the malformations are usually unilateral (Mathog et al., 1980). Management
and Intervention
Because of the multiple anomalies present in children with Goldenhar’s syndrome, an interdisciplinary team approach is necessary for appropriate overall management. Indirect and direct therapy should be initiated as early as possible. Parental counseling is important for providing information and support. Parents need to be aware of vertebral malformations, cardiac defects, and renal problems (Mathog et al., 1980). Referrals for appropriate surgical management of the impaired structures will be needed in order to improve their appearance and functionality. Since these children demonstrate deficits of the oral structure, dental management and good dental hygiene should be discussed. As stated, mental retardation is not common in this syndrome. Therefore, the parents need to be aware that their child will most likely have normal intelligence (Mathog et al., 1980). Speech and language disorders have not been studied or reported in the literature. However, because of the conductive hearing loss and oral defects, the parents should anticipate an articulation disorder. Intensive and consistent speech and language therapy should be implemented in order to stimulate speech and language development. Indirect therapy should provide the parents with suggested stimulatory activities to do at home with their child. CASE STUDY George, a IPmo-old ambulatory male, was initially diagnosed with Goldenhar’s syndrome at a children’s hospital in Tennessee. The physical features that led to the diagnosis of Goldenhar’s syndrome were microtia and mild hemifacial microsomia, cleft lip (see Figure l), and vertebral anomalies, which included butterfly vertebral body in the midthoracic area with some cervical ribs and anal stenosis. He remained in the hospital for 1 mo after birth and was discharged with the diagnosis of Goldenhar’s syndrome, dysplasia of the right ear (see Figure 2), bilateral vesicoureteral reflux, and focal interventricular and periventricular hemorrhages. George was the second child of triplets. One sibling died at 17 days of age due to aspiration pneumonia. The other died of sudden infant death
Figure 1.
George at 9 mo of age, prior to surgical repair of incomplete cleft of
lip. syndrome (SIDS) at age 3 mo. Since that time George has been on a home apnea monitor. George was born at 8 mo gestation and delivered via Cesarean section. His birthweight was 4 lb 1 oz. His mother was a 22-yr-old who had been under a physician’s care for anemia and toxemia during pregnancy and was maintained on Ritodrine, a drug to inhibit premature labor, from the seventh month of pregnancy. Family history was negative for multiple births and congenital anomalies. Hydrocephalus was noted when George was 5 mo old. At 8 mo, he was readmitted to the hospital for fever, rash, and evaluation of hydrocephalus. A CT scan revealed cranial and facial asymmetry consistent with Goldenhar’s syndrome, and right frontal and temporal cortical atrophy. The hydrocephalus was felt to have arrested. George was evaluated by an interdisciplinary diagnostic team in Mississippi in September 1983, at 1 yr of age. Results of a speech-language
388
P. BELENCHIA
and P. McCARDLE
Figure 2. George
at 19 mo of age; note dysplasia
of right ear.
Figure 3. George skills.
at 19 mo of age. demonstrating
appropriate
motor
and social
GOLDENHAR’S
SYNDROME
389
evaluation indicated significant delay in overall language development, with performance of 4-5-mo age level on the Receptive-Expressive Emergent Language Scale (REEL) (Bzoch and League, 1970). His receptive language age was 6-7 mo while his expressive language was 23 mo. On the Wisconsin Behavior Rating Scale (WBRS) (Song and Jones, 1979) George performed at an 8-mo level for receptive language and at a 6-mo level for expressive language. George’s mother reported that he visually tracked objects at 6 mo, reached for objects at 7 mo, turned his head toward voices at 8 mo, and cooed, after lip repair, at 10 mo. She initially reported feeding difficulties due to his cleft lip, submucous cleft, and gastroesophageal reflux. However, since lip repair, and with successful control of the gastroesophageal reflux, feeding has become less difficult. During the evaluation, George consistently responded to speech by turning his head toward the speaker, momentarily ceasing activity, and/ or cooing or laughing responsively. He reportedly responded to “no” and appeared to recognize a few familiar words (mama, daddy, ball, bottle, bye-bye, and no). He also followed simple verbal commands given with gestural or physical promptings. He vocalized randomly and in response to verbal stimulation. Vocalization consisted of /A/ with varied loudness, repetitive productions of /DA/, and reportedly an ocassional /m/ sound. George did not imitate specific vowels or consonant sounds during vocal play with the mother or examiner. The mother stated that his vocalizations have increased since the lip repair in August 1983. His voice was hypernasal with audible nasal emission due to velopharyngeal insufficiency. George exhibited age-appropriate functional play with toys within physical limitations, along with emerging motor imitation skills, such as waving “bye-bye,” shaking his head “no-no,” and attempting to wind up a jackin-the-box. Audiological testing was performed in a controlled sound field. George responded to his name at 15 dB hearing level (HL), a 1500-Hz warbled tone presented at 20 dB HL, and a bell at 30 dB HL. Because of rightear atresia these responses were assumed to be representative of the left ear. George has been enrolled in an early intervention program at a center in Mississippi since January 1984. After 4 mo of language therapy, George was reevaluated. The REEL (Bozch et al., 1970) was readministered. Test results revealed an overall language age of 20-mo, which is a month above his age. The WBRS (Song et al., 1979) was also readministered with test results revealing a receptive language age of 26 mo and an expressive language age of 21 mo. His behavioral age was 22.4 mo. The Preschool Language Scale (PLS) (Zimmerman, Steiner, and Pond, 1976) was administered. Results indicated an auditory comprehensive age of 30 mo and a verbal ability age of 20 mo. It should be noted that for expressive language, approximations of words were accepted.
390
P. BELENCHIA
and P. McCARDLE
Pragmatically, George uses language appropriately. He requests, comments, and initiates communicative interactions. Phonologically, George exhibited significant progress over the earlier evaluation. He produced various vowels and the consonants /k, g, 0, n, b, m, w/. George is difficult for the uninitiated listener to comprehend due to his hypernasality and nasal emission, but intelligibility should improve with surgical intervention for velopharyngeal incompetence and submucous cleft. In summary, at 19 mo of age (see Figure 3), George exhibited normal language performance but with articulatory problems due to the presence of craniofacial anomalies. He has made significant progress since age 12 mo, at which time his language skills had been significantly delayed. George’s case is illustrative of two important points. Mental retardation in Goldenhar’s syndrome is rare; in spite of George’s initial lags in development, this gave his parents reason to hope for significant progress. This case also demonstrates the value of a parent-centered early intervention program. SUMMARY Goldenhar’s syndrome is a rare symptom complex involving deformities of the eye, ear, and vertebrae with assqciated renal and cardiac defects. First described by Goldenhar in 1952 (Parving, 1978), the major features consist of occular anomalies, atresia or stenosis of the external auditory meatus, auricular appendices, hypoplasia of the mandible, hemivertebrae, and congenital heart disease. Mental retardation is rare (Mathog, et al., 1980; Northern et al., 1974 and 1978). The true etiology is controversial. Most evidence supports a nonhereditary basis because of the variation of hemifacial microsomia seen in this syndrome (Mathog et al., 1980), but some support for an autosomal dominant trait with incomplete penetrance comes from reports of familial Goldenhar’s syndrome by Summitt in 1962 (cited in Parving, 1978) and later by Parving in 1978. Confusion still exists in specitic classification of some cases .because other first and second branchial arch syndromes have similar features as Goldenhar (Mathog et al., 1980). Because of this confusion it is important to differentially diagnose Goldenhar’s syndrome so that parent counseling can begin and prognosis can be made. Parent counseling is necessary for providing information about surgical repair, expectations, and other associated problems that may be present or appear later. Since mental retardation is not common, the parents need to be aware that their child may have normal intelligence (Mathog et al., 1980). Knowledge of such a possibility can be an important motivating factor for parents, whose role in early intervention is critical.
GOLDENHAR’S
SYNDROME
The effect of hearing loss and oral structure deformities on speech and language acquisition should be discussed. Although the literature has not reported articulation or language problems in this syndrome, one should suspect an articulation disorder due to these concomitant factors. For appropriate management a team approach is needed for improving appearance, functionality of impaired -structures, speech and language development, and promoting normal growth and development of the total child. Involvement of family in the activities of the team is of utmost importance. Parents who understand the rationale behind the various therapies will often participate more willingly and comfortably in the therapy process, implementing all-important home programs. We have described the case of a 19-mo-old male, the sole survivor of triplets, who exhibits Goldenhar’s syndrome. His progress from delayed language at 12 mo of age to normal language abilities at 19 mo illustrates the value of an interdisciplinary team approach joined with parent-centered therapy. It is important to document cases such as George’s to provide reference information on communication development and disorders among children with various syndromes, and to document the success of various therapy approaches with these children. The assumption that communication disorders do not exist among such populations simply because there is little or no literature on the subject is an invalid one. Additional case studies and longitudinal data on the development of communication in children with specific syndromes would be a valuable addition to the literature in the tield. The authors wish to acknowledge the cooperation of the staff of the early intervention project at the North Mississippi Retardation Center, and of George’s mother, whose boundless energy and undying enthusiasm contributed significantly to the intervention program for her son. Her eagerness to help other children by sharing information on her son is inspiring to us all.
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