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On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family.

Authors
  • Baldellou, A
  • Rodriguez, M
  • Tamparillas, M
  • Sanjuan, P
  • Solsona, B
Type
Published Article
Journal
Genetic counseling (Geneva, Switzerland)
Publication Date
Jan 01, 1991
Volume
2
Issue
4
Pages
255–257
Identifiers
PMID: 1799427
Source
Medline
License
Unknown

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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