On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family. |
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| Authors: | A Baldellou M Rodriguez M Tamparillas P Sanjuan B Solsona |
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| Affiliation: | Hospital Infantil Miguel Servet, Zaragoza, Spain. |
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| Abstract: | We report the occurrence of the BBB syndrome and type 1 hereditary sensorimotor neuropathy (HSMN) in the same family: both disorders concurred in two brothers and a third presented only type 1 HSMN. The clinical findings in this family support the idea that the BBB and the G syndromes are variable manifestations of the same entity. The hypothesis that the BBB syndrome and type 1 HSMN might represent a contiguous gene syndrome is, however, not fully supported. |
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