PTEN, Sotos, Williams, RS, etc.
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| show | Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome
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| PTEN Disoders are also known as ... | show 🗑
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| PTEN Gene | show 🗑
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| PTEN Gene, normal function... | show 🗑
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| Cowden syndrome in a nutshell | show 🗑
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| Cowden syndrome phenotype | show 🗑
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| show | intestinal DO characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis, eye problems.
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| Proteus syndrome | show 🗑
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| show | tissues of the bone, skin, CNS, eye, connective tissue
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| show | individuals who fail to meet specific criteria for PS, CS, or BRRS.
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| All PTEN disorders are inherited in what manner? | show 🗑
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| show | before birth
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| show | the growth rate slows and adults with this disorder often attain a height that is within the normal range.
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| show | may also have hypotonia, drooling, delayed speech development, delay in meeting milestones.
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| Sotos syndrome quick facts | show 🗑
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| Clinical features of Sotos | show 🗑
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| show | Long narrow face, prominent narrow jaw, downslanting palpebral fissures, forehead bossing, flushed cheeks
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| show | ADHD, Phobias, OCD, Tantrums, Impulsive behavior
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| Adult height for Sotos patients is usually... | show 🗑
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| MRI findings for Sotos patients | show 🗑
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| With Sotos, always rule out... | show 🗑
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| Williams syndrome mutation | show 🗑
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| Characteristics facial appearance of Williams patients | show 🗑
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| Clinical features of Williams | show 🗑
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| Cardiovascular disease in Williams patients | show 🗑
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| show | Hoarse voice, inguinal/umbilical hernias, joint limitation or laxity, soft skin
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| show | Strengths in verbal short-term memory (songs) and extreme weakness in visuospatial construction
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| show | chromosome 11, methylation involving the h19 and IGF2 genes
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| Maternal UPD causes what percent of RS? | show 🗑
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| show | sporadic, but can be sporadic
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| IUGR, Postnatal growth retardation and RS | show 🗑
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| show | 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 | show 🗑
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| show | 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 | show 🗑
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