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A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot‐Marie‐Tooth disease
Author(s) -
Ruiz C.,
Rivas F.,
RamírezCasillas G.,
VázquezSantana R.,
MendozaChalita B.,
FeriaVelasco A.,
TapiaArizmendi G.,
Cantú J. M.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02778.x
Subject(s) - shoulders , medicine , hereditary motor and sensory neuropathy , electrophysiology , sensory system , myopathy , anatomy , neuroscience , disease , pathology , biology
A 37‐year‐old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a “new” syndrome probably due to an autosomal dominant gene.