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  • Title: [Otologic signs and early diagnosis of Turner syndrome. Reevaluation of 30 cases].
    Author: Leheup BP, Perrin P, Perrin C, Pierson M.
    Journal: J Genet Hum; 1988 Aug; 36(4):315-21. PubMed ID: 3221207.
    Abstract:
    In most occasions the Turner's syndrome is diagnosed on the basis of severe growth retardation. But the possibility of an effective treatment of short stature requires earlier a diagnosis. Among the other signs, the importance of ORL signs is underestimated. A group of 30 patients has been analysed to determine their precise extension. The external ears are frequently prominent, low-set and/or posteriorly rotated. Frequency and chronicity of otitis media is highlighted by hypoacousy of the transmission type. The perception pathology is far less common and seems being independent of middle ear pathology. A abnormal development of the 1st branchial arch is likely to explain the auricular pathology in view of the frequently associated anomalies of the palate and the dental articulation. One must clearly consider the diagnosis of Turner syndrome in the case of chronic auricular pathology associated with low linear velocity in a young girl allowing for earlier diagnosis.
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