Abstract Four patients with Apert's acrocephalosyndactyly were found to have congenital maximum conductive hearing losses. A congenitally fixed stapes footplate and perilymph gusher, suggesting abnormally patent cochlear aqueduct, was found in the ear of one patient, whose mother also had the syndrome. In another young adult Negro patient with stable, long-term hearing loss, middle ear impedance studies were consistent with ossicular fixation. In the fourth patient, a young child, the hearing loss was believed to be present since early life, and the eardrums were normal. The classic overt physical findings of this disorder and occult findings that may be associated are reviewed. Congenital stapes fixation is believed to be a frequent finding in this disorder and should be sought in all patients bearing the stigmata of acrocephalosyndactyly. References 1. Apert ME: De l'acrocéphalosyndactylie . Bull Soc Med Hop Paris 23:1310-1313, 1906. 2. Blank CE: Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of 39 cases . Ann Hum Genet 24:151-164, 1960.Crossref 3. Tünte W, Lenz W: Zur Häufigkeit und Mutationsrate des Apert-Syndroms . Humangenetik 4:104-111, 1967. 4. Magnan M, Galippe V: Accumulation de stigmates physiques chéz un débile: Brachycéphalie, plagiocéphalie, ácrocéphalie, asymétrie faciale, atrésie buccalle, syndactylie des quatre extrémitiés . Compt Rend Soc Biol 4:277, 1892. 5. Ireland WW: The Mental Affections of Children: Idiocy, Imbecility and Insanity . London, J & A Churchill Ltd, 1898, p 448. 6. Bertolotti M, Boidi Trotti G: L'acrocefalsindattilia di Apert considerata come una varieta fetale della cranio--sinostosi patologica . Riforma Med 31: 679, 1915. 7. Ruh HO: Acrocephalosyndactylism, a teratological type . Amer J Dis Child 11:281-290, 1916. 8. Grebe H: Die Akrocephalosyndaktylie: Eine klinisch-ätiologische Studie . Z Menschliche Veverbungs Konstitutionslehre 28:211-261, 1944. 9. Kahn A Jr, Fulmer J: Acrocephalosyndactylism . New Eng J Med 252:379-382, 1955.Crossref 10. Clerc P, Deumier R: Deafness in osseous dysplasia and craniofacial dysmorphia . Ann Otol 74:852-874, 1958. 11. Grimaud R, Mounier-Kuhn P, Gignoux M, et al: Dyostose cranio-faciale et acrocéphalo-syndactylie , in Troubles de l'Appareil Auditif et Manifestations Ophthalmoliques Associés . Paris, Societé Française d'Oto-Rhino-Laryngologie, 1962, pp 108-111. 12. House HP: Congenital fixation of the stapes footplate . Otolaryng Clin N Amer 2:35-51, 1969. 13. Olson NR, Lehman RH: Cerebrospinal fluid otorrhea and the congenitally fixed stapes . Laryngoscope 78:352-360, 1968.Crossref
Archives of Otolaryngology – American Medical Association
Published: Aug 1, 1972
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