Download Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson PDF

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By Roger E. Stevenson

The Atlas of X-Linked highbrow incapacity Syndromes is a finished and updated precis of the clinically specified issues attributable to genes at the X chromosome. medical and laboratory information on one hundred fifty syndromes are offered in a concise and constant demeanour. every one syndrome is outlined and knowledge is supplied on somatic positive factors, progress and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the dependable gene. Craniofacial and different somatic findings are broadly illustrated. A differential matrix accompanies each one syndrome description to help the reader in settling on different X-linked syndromes with overlapping positive factors. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal gains and supply the positioning or mapping limits and serve as of the in charge genes.

The authors have broad event within the scientific and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped illness loci at the X chromosome, and pointed out the genes chargeable for X-linked syndromes.

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XLID with myopia, slowly progressive scapuloperoneal muscular dystrophy, and hypertrophic cardiomyopathy. The gene has not been mapped. Somatic Features. Major malformations or distinctive craniofacial characteristics do not occur. There is a slowly progressive muscular dystrophy with predominant humeroperoneal weakness. The clinical course is dominated by the cardiomyopathy, manifested by subendocardial and patchy subepicardial fibrosis, vacuolization, and fatty deposition in myocytes, all of which lead to limited exercise tolerance, syncope, heart failure, arrhythmias, and death by early adult life.

Shallow pectus excavatum, ulnar deviation of the hand, scoliosis, and valgus position of the great toe may be seen. Excessive drooling and dysarthria continue into adult life, deep tendon reflexes become hyperactive, and clonus and Babinski signs may be seen. Fungal infections appear common. Growth and Development. Some affected males never develop speech or independent ambulation. Adult stature and head circumference appears normal. Puberty occurs at the usual age, and external genitalia are normal.

Marked myopia may be a feature. Growth and Development. Childhood growth proceeds normally. Muscle hypertrophy does not occur; rather, muscles show progressive wasting. Early childhood development milestones may be achieved at the usual times. Cognitive Function. Impairment of cognitive function is first noted at age 5 to 6 years and may be progressive. A B C D Bergia Cardiomyopathy. Chest radiograph of 17-year-old male showing cardiomegaly (A). Light microscopy of quadriceps biopsy revealing variable fiber size and shape and internalization of nuclei (B); electron microscopy of quadriceps showing increased lysosomes [L] containing necrotic fibers (C); light microscopy of left ventricle with increased interstitial connective tissue and fibrosis [S] (D).

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