New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.
A new syndrome of unknown origin is reported, consisting of facial dysmorphism (upward slanted palpebral fissures, single superior central incisor, narrow, cylindrical nose with hypoplastic alae), bilateral agenesis of the clavicles, limited movements of elbow and fingers, calf atrophy and pes cavus with abolished reflexes (Charcot-Marie-Tooth syndrome, unspecified type).
Verloes
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Wallonia Centre for Human Genetics, Liège University, Belgium. Alain.Verloes@chu.ulg.ac.be
Lesenfants
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D001284:Atrophy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis*; D002648:Child; D002968:Clavicle / Q000002:abnormalities*; D004551:Elbow Joint / Q000503:physiopathology; D005145:Face / Q000002:abnormalities*; D005385:Fingers; D005500:Follow-Up Studies; D006801:Humans; D007180:Incisor; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis*; D013577:Syndrome; D013997:Time Factors; D014071:Tooth Abnormalities / Q000175:diagnosis*