Congenital spinal fusion, constituting the Klippel-Feil anomaly, has long been known to be associated with severe deafness in many patients. Ten such cases are described, with audiometric and tomographic assessment of the ear lesions. Of the 20 ears examined, 12 showed evidence of severe hearing loss and of these, 11 had evidence of significant inner ear dysplasia on tomography. Middle and external ear abnormalities were also demonstrated. The significance of these findings and the relation to other syndromes is discussed.
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References
1.
KonigsmarkBGorlinRJ.Genetic and metabolic deafness. Philadelphia: WB Saunders, 1976.
2.
LivingstoneGDelahuntyJE.Malformation of the ear associated with congenital ophthalmic and other conditions. J Laryngol Otol1968; 82: 495–504.
3.
GorlinRJPindborgJJ.Syndromes of the head and neck. New York: McGraw-Hill, 1964.
4.
FraserGR.The causes of profound deafness in childhood. London: Balliere Tindall, 1976.
5.
GoodmanRMGorlinRJ.Atlas of the face in genetic disorders. 2nd ed.St. Louis, CV Mosby, 1977.
6.
StarkEWBortonTE.Klippel-Feil Syndrome and associated hearing loss. Arch Otolaryngol1973; 97: 415–9.
7.
SinghSPRockEHShulmanA.Klippel-Feil syndrome with unexplained apparent conductive hearing loss. A case report. Laryngoscope1969; 79: 113–7.
8.
AndersonHFilipsonRFluurEKochBLindstenJWedenbergE.Hearing impairment in Turner's syndrome. Acta Otolaryngol (Stockh)1969: Suppl 247.
9.
McLayKMaranADG.Deafness and the Klippel-Feil syndrome. J Laryngol Otol1969; 83: 175–84.
10.
CaldarelliDD.Congenital middle ear anomalies associated with craniofacial and skeletal syndromes. In: JaffeeBFHearing loss in children.Baltimore: Univ. Park Press, 1977.
11.
EverbergGRatjenESørensenH.Wildervanck's syndrome. Klippel-Feil's syndrome associated with deafness and retraction of the eyeball. Br J Radiol1963; 36: 562–7.
12.
FraserWIMacGillivrayRC.Cervico-oculo-acoustic dysplasia. J Ment Defic Res1968; 12: 322–9.
13.
OrmerodFC.The pathology of congenital deafness. J Laryngol Otol1960; 74: 919–50.
14.
ValvassoriGENauntonRFLindsayJR.Inner ear anomalies: clinical and histopathological considerations. Ann Otol Rhinol Laryngol1969; 78: 929–38.
15.
SuehiroSSandoI.Congenital anomalies of the inner ear. Introducing a new classification of labyrinthine anomalies. Ann Otol Rhinol Laryngol1979; Suppl 59.
16.
BaumeisterSTerraheK.Innenohrmissbildungen beim Klippel-Feil Syndrome. Laryngol Rhinol Otol (Stuttg)1974; 53: 120–30.
17.
PhelpsPDSheldonPWELloydGAS.Hearing in patients with congenital deformity of the inner ear. Clin Otol1976; 1: 31–8.
18.
Windle-TaylorPCBuchananGMichaelsL.The Mondini defect in Turner's syndrome: a temporal bone report. Clin Otol1981. In press.
IllumP.The Mundini type of cochlea malformation. A survey of the literature. Arch Otolaryngol1972; 96: 305–11.
21.
DanilidisJMagnarisTDimitriadisAIliadesTManolidisL.Stapes gusher and Klippel-Feil syndrome. Laryngoscope1978; 88: 1178–83.
22.
PhelpsPDLloydGAS.Congenital deformity of the internal auditory meatus and labyrinth associated with cerebrospinal fluid fistula. Adv Otol Rhinol Laryngol1978; 24: 51–7.
23.
PhelpsPD.Congenital lesions of the inner ear, demonstrated by tomography. A retrospective study of 34 cases with special reference to the lateral semicircular canal. Arch Otolaryngol1974; 100: 11–8.
24.
PoswilloD.Otomandibular deformity: pathogenesis as a guide to reconstruction. J Maxillofac Surg1974; 2: 64–72.
25.
LloydGASPhelpsPD.Radiology of the ear in mandibulo-facial dysostosis — Treacher Collin's syndrome. Acta Radiol [Diagn] (Stockh)1979; 20: 233–40.
26.
BakerDHBerdonWEMorishimaAConteF.Turner's syndrome and pseudo-Turner's syndrome. Am J Roentgenol1967; 100: 40–7.
