The association of hereditary neuropathies and heritable skeletal disorders.
We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.
Chattopadhyay
A K
AK
Royal Hallamshire Hospital, Sheffield, UK.
Kandler
R H
RH
Sharrack
B
B
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D004535:Ehlers-Danlos Syndrome / Q000150:complications*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications*; D010523:Peripheral Nervous System Diseases / Q000235:genetics