On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family.
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.
Baldellou
A
A
Hospital Infantil Miguel Servet, Zaragoza, Spain.
Rodriguez
M
M
Tamparillas
M
M
Sanjuan
P
P
Solsona
B
B
D002648:Child; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D010375:Pedigree; D014960:X Chromosome