Variable expression of clinical features of Martin Bell syndrome in younger patients.
The clinical features of 20 patients of Martin Bell syndrome were analyzed in order to derive diagnostic features in younger patients. The characteristic clinical features comprising long face, large ears and macro-orchidism were commoner in children more than 10 years old than in prepubertal children. This study shows that younger the patient, fewer the classical features exhibited. Hyperactivity was the most useful feature for diagnosis of the younger patient with Martin Bell syndrome.
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Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Elango
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D000293:Adolescent; D000367:Age Factors; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male