Four cases of Treacher Collins syndrome, three brothers and the eldest brother's daughter in the same family, were reported. The characteristic fish-like facial appearance and the bilateral conductive ductive deafness were common findings in all of them.
In the first case, a male aged 37 years, the hypoplasia of the maxillae and mandible, anti-mongoloid inclination of the palpebral fissures, myopia and strabismus divergens were found. His auricles were flat and positioned unusually low. Roentgenologic examinations revealed highly inhibited pneumatisation, especially absence of the antrum, unusually large frontal sinuses and a small sella turcica. Average hearing loss in speech range was 52.50db on the right ear and 53.75db on the left.
In the second case, a male aged 35 years, the development of the facial bones was more disturbed than in the first case. The anti-mongoloid obliquity of the the lid axis, strabismus divergens, high palate with a fistula on the midline, nonprominent crura antihelicis, congenital fistula on the auricles and narrow external auditory meatus were noted. Roentgenologic findings of ears were similar as in the first case. Audiometric examinations revealed conductive deafness of both ears: hearing loss was 47.50db on the right and 52.50db on the left.
In the third case, a male aged 30 years, the obliquity of the lid axis, strabismus divergens, large frontal sinuses, high palate, macrostomia, macrog- lossia and malocclusion of the teeth were noted. His hair grew in the form of tongue-shaped process of the hair-line extending towards the cheeks. Otological examinations revealed a lower than normal position of auricles, narrow and curved external auditory meatus, underdevelopment of the antrum and mastoid cells and conductive hearing loss of 41.25db on the right and 52.50db on the left.
The fourth case was a daughter of the first case, aged 9 years. Typical facial features, such as disappearance of the frontonasal angle, micrognathia, hair-tongue on both cheeks, were noted. The left microtia with atresia auris and the right with extremely narrow external auditory canal were remarkable in this case. Roentgenological examinations showed markedly inhibited pneumatisation of the temporal bone with absence of the left tympanic cavity. Hearing loss was 40db in both cars.
In the second and third cases, tympanoplasty (Wullstein's the third type) was done on bilateral ears and hearing acuity was improved in each ear. The main operative findings of these four ears were as follows:
1) unusually large suprameatal spine,
2) abnormal extension of the auricular cartilage into the osseous meatus,
3) absence of the antrum and narrow attic,
4) absence of the incus and slight or moderate malformation of the malleus and stapes,
5) absence of stapedial muscle,
6) no appearance of the chorda tympani in the tympanic cavity associated with abnormal course of the facial nerve,
7) no inflammatory process, no ankylosis, no adhesion.
Pathogenesis, heredity, clinical symptoms and operative findings in this syndrome were discussed in detail. The authors emphasized that the hearing loss in this syndrome should be improved by tympanoplasty.
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