PTEN, Sotos, Williams, RS, etc.
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| PTEN Disorders | Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome
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| PTEN Disoders are also known as ... | PTEN Hamartoma tumor syndrome (PHTS)
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| PTEN Gene | 10q23.3
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| PTEN Gene, normal function... | tumor suppressor
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| Cowden syndrome in a nutshell | multiple hamartoma syndrome which high risk of benign and malignant tumors of the thyroid, breast and endometrium.
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| Cowden syndrome phenotype | macrocephaly, trichilemmomas, popullomatous pupules by late 20s
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| Bannayan-Riley-Ruvalcaba syndrome (BRRS) dx criteria | intestinal DO characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis, eye problems.
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| Proteus syndrome | complex, high variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses
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| The most often affected areas of PS are | tissues of the bone, skin, CNS, eye, connective tissue
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| Proteus-like syndrome | individuals who fail to meet specific criteria for PS, CS, or BRRS.
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| All PTEN disorders are inherited in what manner? | AD
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| BRRS affects babies... | before birth
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| As BRRS infants age, | the growth rate slows and adults with this disorder often attain a height that is within the normal range.
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| Infants affected with BRRS | may also have hypotonia, drooling, delayed speech development, delay in meeting milestones.
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| Sotos syndrome quick facts | Incidence 1 in 10,000 to 14,000 LBS, NSD1 gene at 5q35, 95% de novo rate, Possible AD inheritance, 100% have macrocephaly by 14 y/o
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| Clinical features of Sotos | Overgrowth in childhood, developmental delay, behavioral issues, Characteristic facial features
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| Characteristic facial features in Sotos patients | Long narrow face, prominent narrow jaw, downslanting palpebral fissures, forehead bossing, flushed cheeks
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| Behavioral issues in Sotos patients | ADHD, Phobias, OCD, Tantrums, Impulsive behavior
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| Adult height for Sotos patients is usually... | in the normal range
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| MRI findings for Sotos patients | Prominence of occipital horns, corpus collosum can be thinned out or absent;
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| With Sotos, always rule out... | Fragile X
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| Williams syndrome mutation | del 7q11.23 (90%) AD
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| Characteristics facial appearance of Williams patients | Broad brow, stellate iris, short nose and full nasal tip, full lips and wide mouth, prominent ears, eflin like
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| Clinical features of Williams | Unique personality, mental retardation, specific cognitive profile, connective tissue abnormalities, cardiovascular disease, hypercalcemia
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| Cardiovascular disease in Williams patients | supravalvular aortic stenosis occurs in 75% of cases
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| Connective tissue abnormalities in Williams patients | Hoarse voice, inguinal/umbilical hernias, joint limitation or laxity, soft skin
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| Specific cognitive profile of Williams patients | Strengths in verbal short-term memory (songs) and extreme weakness in visuospatial construction
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| Russel-Silver gene mutations | chromosome 11, methylation involving the h19 and IGF2 genes
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| Maternal UPD causes what percent of RS? | ~40%
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| Inheritance of RS: most cases are | sporadic, but can be sporadic
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| IUGR, Postnatal growth retardation and RS | Birth weight 2 SDs below the mean
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| Clinical features of RS | normal head circumference with appearance of hydrocephalus; triangular face; fifth-finger clinodactyly; limb-length asymmetry;
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| UPD 7 and specific RS phenotype | Pre and postnatal growth deficiency, absence of craniofacial characteristics, speech delay, poor feeding, excessive sweating without episodes of hypoglycemia
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| Clinical assessment for RS | usually slim or underweight, normal head size but appears large because of small body; episodes of hypoglycemia; asymmetrical limbs
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| Testing for RS | Cytogenetic analysis for dup 11p15.5, dup 7p11-12, maternal UPD 7, H19 methylation analysis
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Created by:
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