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Tricho-rhino-phalangeal syndrome type I


European Journal of Dermatology. Volume 11, Number 4, 385-7, July - August 2001, Votre diagnostic ?

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Author(s) : S. Poyanmehr, P. Freyschmidt-Paul, R. Happle, R. Hoffmann

Summary : The mother of an 8-year-old girl noticed that there was no need to cut her daughter's hair as she did in her other childern. The previous medical history was unremarkable. Physical examination revealed a healthy girl of normal growth (height: 124 cm, weight: 26 kg) and intelligence. The hair was sparse and fine (Fig 1). The facial appearance is shown in Figures 1 and 2. Routine laboratory examination were within the normal range. Which diagnosis do you suggest? Which additional examinations do you propose?

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