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Biomedical subjects

M Paira

Publications and source records attributed to M Paira.

8 recordsLinked to original sources

[Costal exostoses, complicated in the neonatal period, by brachial plexus paralysis. A distinct entity of exostoses?].

Two highly unusual cases of brachial plexus palsy due to compression by exostosis of the first rib in the neonatal period are reported. Etiologic diagnosis in these patients required elimination of other tumors of the first rib, including multiple exostoses. The contradictions found lead the authors to suggest individualization of a form of multiple exostoses different from classical multiple exostoses by a number of features including growth, complications, and inheritance. At present, it is not known whether this new entity carries the same risk of malignant transformation as classical multiple exostoses.

Bone Neoplasms↗

[Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression].

A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.

Adult↗