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  • Title: 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: Ruiz C, Rivas F, Ramírez-Casillas G, Vázquez-Santana R, Mendoza-Chalita B, Feria-Velasco A, Tapia-Arizmendi G, Cantú JM.
    Journal: Clin Genet; 1987 Feb; 31(2):109-13. PubMed ID: 3470161.
    Abstract:
    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.
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