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.
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.
Ruiz
C
C
Rivas
F
F
Ramírez-Casillas
G
G
Vázquez-Santana
R
R
Mendoza-Chalita
B
B
Feria-Velasco
A
A
Tapia-Arizmendi
G
G
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000151:congenital / Q000235:genetics*; D002675:Child, Preschool; D005799:Genes, Dominant; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008297:Male; D009046:Motor Neurons; D009133:Muscular Atrophy / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000151:congenital / Q000235:genetics*; D013577:Syndrome