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
| Autor: | Fernando Rivas, R. Vázquez-Santana, B. Mendoza-Chalita, J. M. Cantú, G. Ramírez-Casillas, Alfredo Feria-Velasco, G. Tapia-Arizmendi, Ruiz C |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Peculiar facies Short neck Narrow shoulders Tooth disease Charcot-Marie-Tooth Disease Genetics Humans Medicine Abnormalities Multiple Hereditary Sensory and Autonomic Neuropathies Myopathy Genetics (clinical) Motor skill Genes Dominant Arthrogryposis Motor Neurons business.industry Neuromuscular Diseases Syndrome Anatomy medicine.disease Muscular Atrophy Child Preschool Sensory neuropathy medicine.symptom business Hereditary motor and sensory neuropathy |
| Zdroj: | Clinical Genetics. 31:109-113 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1987.tb02778.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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