Disclaimer: The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature.

Approximately 5,000 children are born every year in the United States who will be found to have a significant hearing impairment. The hearing loss may be secondary to congenital or postnatally acquired conditions. Congenital hearing loss is attributed to a defect that the child is born with, either an inherited genetic defect or the result of a prenatally acquired condition. The important non-hereditary causes of congenital hearing loss include drug exposure, prenatal infections (TORCH) and erythroblastosis fetalis.

Three-quarters of childhood hearing impairment is postnatally acquired. Infections, drugs, hyperbilirubinemia, noise exposure, and trauma have all been implicated in contributing to postnatally acquired hearing loss. In addition to meningitis and sepsis, the important infectious diseases associated with postnatally acquired hearing loss include adenovirus, mumps, chicken pox, hepatitis, EBV, and influenza. Hyperbilirubinemia when greater than 20 mg % will result in damage to the cochlear nucleus.

Although most hereditary disorders appear to follow the rules of Mendelian inheritance, marked variability of gene expression and incomplete penetrance may confound the diagnosis and clinical recognition of many of these disorders. A complete family history is essential to uncover these types of hearing loss. This is especially true for nonsyndromic inherited hearing loss. The hearing loss may be present at birth or may develop later in life. All forms of inheritance, autosomal dominant, autosomal recessive, and X-linked, have been documented in families with nonsyndromal hereditary hearing impairment (HHI).

Hearing loss is a component of over 200 inherited syndromes. Many syndromes in which hearing loss is a significant component were reviewed for this presentation. The major features of some of these syndromes will be reviewed in this abstract.

For convenience these syndromes can be categorized by the association with other morphologic abnormalities. Important syndromes where deafness is associated with craniofacial abnormalities include Treacher-Collins, Goldenhar's, Crouzon's, and Apert's syndromes. All except Goldenhar's (AR) are inherited in an autosomal dominant fashion. Hearing loss in these syndromes is mixed or conductive and may be surgically correctable.

Hearing loss in association with visual loss is a particularly devastating combination. There are four important syndromes with this combination: Usher's, Alstrom's, Cockayne's and Refsum's disease. All are inherited in an autosomal recessive fashion. Retinitis pigmentosa is associated with all except for Cockayne's syndrome. There are four types of Usher's syndrome. Type I is the most severe and is associated with vestibular dysfunction

Apert's syndrome consists of progressive renal insufficiency, progressive sensorineural hearing loss and various ocular abnormalities. This syndrome demonstrates X-linked dominant inheritance: males are more severely affected and females may have a variable course to their disease because of random X chromosome inactivation.

Jervell and Lange-Nielsen syndrome is the most common syndrome with cardiac dysfunction and hearing loss. There is a conduction defect resulting in a prolonged QT interval on electrocardiogram, and clinically with fainting spells or sudden death. Jervell and Lange-Nielsen is inherited in an autosomal recessive manner.

Pendred's syndrome is the most frequently occurring example of associated deafness and endocrine dysfunction. This disorder results from an error in thyroxin metabolism. A goiter may be clinically palpable and profound sensorineural hearing loss is usually present.

Dermal abnormalities and deafness characterize Waardenburg's syndrome and the LEOPARD syndrome. Clinical features of Waardenburg's include dystopia canthorum, deafness, a high broad nasal root, synophrys, heterochromia irides, and early graying. There are two types of this syndrome characterized by the presence or absence of dystopia canthorum. When dystopia canthorum is absent, but the other features of the syndrome are present, there is a higher incidence of deafness.

Metabolic syndromes, especially the mucopolysaccharidoses, are frequently associated with conductive or mixed hearing loss. Chromosomal abnormalities, specifically trisomy 13 and 18 are often associated with deafness. Because these conditions are lethal in early infancy the deafness is of relatively minor significance. Down's syndrome is often associated with a mixed hearing loss.

Early identification of hearing loss is desirable to optimize rehabilitation. Identification of hearing loss in young children is facilitated by a clinician who looks carefully for a family history of early hearing loss, and who is attuned to the many syndromes associated with hearing impairment. Complete otologic and auditory evaluation of these children is essential.

Case Presentation

An eight-month-old child presented to Texas Children's Hospital for an otologic evaluation. The child was born full term via an uncomplicated vaginal delivery. There was no history of infections, drug or alcohol use during the pregnancy. Both parents are hearing- impaired. The mother reported the etiology of her deafness as "tonsillitis" and the etiology of her husband's hearing loss as "high fever." On physical examination the child demonstrated multiple stigmata of Waardenburg syndrome including dystopia cantorum, heterochromia irides, a broad nasal root, and synophrys or confluence of the eyebrows. The mother has similar features and in addition has a white forelock that is also associated with this syndrome.

Audiologic evaluation revealed no responses to speech, warble tones, or narrow band noise in the sound room. Auditory brainstem response audiometry showed no response to air or bone conducted clicks at equipment levels in either ear. In light of her significant sensitivity loss she was referred for hearing aid evaluation.

Despite the fact that both parents are hearing-impaired and communicate through signing, they were anxious to have the child fitted with hearing aids. The parents were referred for genetic counselling to provide them with a better understanding of the full implications of this disease.

Bibliography

Alford BR. Rubella - la bête noire de la médecine. Laryngoscope 1968;78:1623-1659.

Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927;1:504-506.

Anagnostakis D, Petmezakis J, Papazissis G, Messaritakis J, Matsaniotis N. Hearing loss in low-birth-weight infants. Am J Dis Child 1982;136:602-607.

Andreoli SP, Deaton M. Alport's syndrome. Ear Nose Throat J 1992;71:508-511.

Batsakis JG, Nishiyama RH. Deafness with sporadic goiter: Penred's syndrome. Arch Otolaryngol 1962;76:401-406.

Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936;11:1-8.

Crysdale WE. Otorhinolaryngologic problems in patients with craniofacial anomalies. Otolaryngol Clin North Am 1981;14:145-155.

d'Avignon M, Barr B. Ear abnormalities and cranial nerve palsies in thalidomide children. Arch Otolaryngol 1964;80:136-140.

Dimitrius A, Petmezakes J, Papazesses G, et al. Hearing loss in low birth weight infants. Am J Dis Child 1982;136:602-604.

Dodge PR, Hallowell D, Feigin RD, Holmes SJ, Kaplan SL, Jubelirer DP, et al. Prospective evaluation of hearing impairment as a sequela of acute bacterial meningitis. N Engl J Med 1984;311:869-874.

Everberg G. Deafness following mumps. Acta Otolaryngol 1957;48:397-403.

Feinmesser M, Landau J. Deafness in toxoplasmosis. J Laryngol 1961;75:171-174.

Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol 1959;73:355=82.

Fraser GR. The causes of profound deafness in childhood. Baltimore: Johns Hopkins University Press, 1976:11-48.

Fraser GR. Profound childhood deafness. J Med Genet 1964;1:118-151.

Friedmann I, Fraser GR, Froggatt P. Pathology of the ear in the cardio-auditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryngol Otol 1966;80:451-470.

Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck, 3rd edition. NY: OUP, 1990.

Grundfast KM, Lalwani AK. Practical approach to diagnosis and management of hereditary hearing impairment (HHI). Ear Nose Throat J 1992;71:479-493.

Hageman MJ, Delleman JW. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 1977;29:468-485.

Hanshaw JB. Congenital cytomegalovirus infection: a fifteen year perspective. J Infect Dis 1971;123:555-561.

Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97(Suppl 40):2-14.

Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death. Am Heart J 1957;54:59-68.

Johnsen T, Larsen C, Friis J, Hougaard-Hensen F. Pendred's syndrome: acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987;101:1187-1192.

Kelemen G. Hurler's syndrome and the hearing organ. J Laryngol Otol 1966;80:791-803.

Kloepfer HW, Laguaite JK. The hereditary syndrome of congenital deafness and retinitis pigmentosa (Usher's syndrome). Laryngoscope 1966;76:850-862.

Konigsmark BW. Hereditary congenital severe deafness syndromes. Ann Otol Rhinol Laryngol 1981;80:269-288.

Konigsmark BW. Hereditary deafness in man. N Engl J Med 1969;281:713-720,774-778,827-832.

Konigsmark BW, Gorlin RJ. Genetic and metabolic deafness. New York: WB Saunders, 1976.

Kos AO, Schuknecht HF, Singer JD. Temporal bone studies in 13-15 and 18 trisomy syndromes. Arch Otolaryngol 1966;83:439-445.

MacDonald WB, Firch KD, Lewis IC. Cockayne's syndrome. Pediatr 1960;25:997-999.

Matthews NL. Lentigo and electrocardiographic changes. N Engl J Med 1968;278:780-781.

McLay K, Maran AGD. Deafness and the Klippel-Feil syndrome. J Laryngol Otol 1969;83:175-184.

Nance WE, Setleff RC, McLeod A, et al. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects 1971;7:64-69.

Paparella MM, Fox RY, Schachern PA. Diagnosis and treatment of sensorineural hearing loss in children. Otolaryngol Clin North Am 1989;22:51-74.

Pass RF, Stagno S, Myers GJ, Alford CA. Outcome of symptomatic congenital cytomegalovirus infection: results of long-term longitudinal follow-up. Pediatr 1980;66:758-762.

Peckham CS, Stark O, Dudgeon JA, et al. Congenital cytomegalovirus infection: a cause of sensorineural hearing loss. Arch Dis Child 1987;62:1233-1237.

Pendred V. Deaf-mutism and goitre. Lancet 1896;2:532.

Preus M, Fraser FC. Genetics of hereditary nephropathy with deafness (Alport's disease). Clin Genet 1971;2:331-337.

Quisling RW, et al. Osteogenesis imperfecta. A study of 160 family members. Arch Otolaryngol 1979;105:207-211.

Refsum S. Heredopathia atactica polyneuritis formis. Acta Psychiatr Scand 1946;38:1-303.

Reynolds DW, Stagno S, Stubbs G, Dahle AJ, Livingston MM, Saxon SS, et al. Inapparent congenital cytomegalovirus infection with elevated cord IgM levels. N Engl J Med 1974;290:291-296.

Richards BW, Runderl AT. A familial hormonal disorder associated with mental deficiency, deaf-mutism, and ataxia. J Ment Defic Res 1959;3:33-55.

Robinson GC, Cambon KG. Hearing loss in infants of tuberculous mothers treated with streptomycin during pregnancy. N Engl J Med 1964;271:949-953.

Scheibe A. A case of deaf-mutism, with auditory atrophy and anomalies of development in the membranous labyrinth of both ears. Arch Otolaryngol 1892;21:120-122.

Shiller JG. Craniofacial dysostosis of Crouzon. Pediatr 1959;23:107-112.

Schuknecht HF. Pathology of the ear. Cambridge, MA: Harvard University Press, 1974;165-209.

Smith RJH. Medical diagnosis and treatment of hearing loss in children. In: Cummings CW, Harker LA, editors. Otolaryngology - Head and Neck Surgery. St. Louis: CV Mosby, 1986;3225-3246.

Smith RJH. A DNA linkage study of Usher's syndrome excluding much of chromosome 4. Laryngoscope 1989;99:940-949.

Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-253.

Wahl RA. Dick M. Congenital deafness with cardiac arrhythmias: the Jervell and Lange-Nielsen syndrome. Am Ann Deaf 1980;125:34-37.  

Grand Rounds Archive | Department Home page

BCM Public | BCM Intranet | Privacy Notices | Contact BCM | BCM Site Map |

©2001-2006 Baylor College of Medicine
Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery
Mail: One Baylor Plaza, NA102, Houston, TX 77030
Phone: 713-798-5906
E-mail: oto@bcm.edu

Last modified: Feb. 16, 2006