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Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome

Jankauskiene A et al. – This case proves that sometimes rare manifestations of branchio–oto–renal (BOR) syndrome may be one of the first signs of an underlying syndrome. Issues regarding patterns of BOR syndrome inheritability and expressivity that they encountered are also discussed. Patients with a familial history of BOR syndrome should be carefully inspected after birth, especially in suspected cases such as newborns with preauricular pits and/or facial nerve palsy. [more...]

European Journal of Pediatrics

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