Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.
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PMID:Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32). 715 49

Total laryngectomy was successfully performed for the management of repetitive lower respiratory tract infections in three cases with severe motor and intellectual disabilities syndrome. The patients were thirteen, ten and nine years of age and had cerebral palsy, mental retardation and epilepsy which resulted from neonatal asphyxia and seizures. To treat repetitive lower respiratory tract infections, the patients underwent the operation at the age of nine years and a month, seven years and six months, and six years and eleven months, respectively. Postoperatively, the respiratory tract infections were remarkably reduced for two to four years. Total laryngectomy is one of the best methods for the prevention of aspiration pneumonia, because it separates trachea and esophagus completely. The operation is indicated for children with influx of saliva into trachea and gastroesophageal reflux. The family should recognize that this operation causes permanent loss of voice and speech. The bronchoscopy, upper gastrointestinal tract barium studies and esophageal pH monitoring should be performed before the operation. Our cases fulfilled all of these indications. Laryngectomy should be considered as an effective method of respiratory management for cases of severe motor and intellectual disabilities syndrome, although its application should be carefully examined from the point of improvement of quality of life for patients.
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PMID:[Successful total laryngectomy in three cases with severe motor and intellectual disabilities syndrome for the management of repetitive lower respiratory tract infections]. 1048 66