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Dysmorphology

PTEN, Sotos, Williams, RS, etc.

QuestionAnswer
PTEN Disorders Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome
PTEN Disoders are also known as ... PTEN Hamartoma tumor syndrome (PHTS)
PTEN Gene 10q23.3
PTEN Gene, normal function... tumor suppressor
Cowden syndrome in a nutshell multiple hamartoma syndrome which high risk of benign and malignant tumors of the thyroid, breast and endometrium.
Cowden syndrome phenotype macrocephaly, trichilemmomas, popullomatous pupules by late 20s
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.
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
The most often affected areas of PS are tissues of the bone, skin, CNS, eye, connective tissue
Proteus-like syndrome individuals who fail to meet specific criteria for PS, CS, or BRRS.
All PTEN disorders are inherited in what manner? AD
BRRS affects babies... before birth
As BRRS infants age, the growth rate slows and adults with this disorder often attain a height that is within the normal range.
Infants affected with BRRS may also have hypotonia, drooling, delayed speech development, delay in meeting milestones.
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
Clinical features of Sotos Overgrowth in childhood, developmental delay, behavioral issues, Characteristic facial features
Characteristic facial features in Sotos patients Long narrow face, prominent narrow jaw, downslanting palpebral fissures, forehead bossing, flushed cheeks
Behavioral issues in Sotos patients ADHD, Phobias, OCD, Tantrums, Impulsive behavior
Adult height for Sotos patients is usually... in the normal range
MRI findings for Sotos patients Prominence of occipital horns, corpus collosum can be thinned out or absent;
With Sotos, always rule out... Fragile X
Williams syndrome mutation del 7q11.23 (90%) AD
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
Clinical features of Williams Unique personality, mental retardation, specific cognitive profile, connective tissue abnormalities, cardiovascular disease, hypercalcemia
Cardiovascular disease in Williams patients supravalvular aortic stenosis occurs in 75% of cases
Connective tissue abnormalities in Williams patients Hoarse voice, inguinal/umbilical hernias, joint limitation or laxity, soft skin
Specific cognitive profile of Williams patients Strengths in verbal short-term memory (songs) and extreme weakness in visuospatial construction
Russel-Silver gene mutations chromosome 11, methylation involving the h19 and IGF2 genes
Maternal UPD causes what percent of RS? ~40%
Inheritance of RS: most cases are sporadic, but can be sporadic
IUGR, Postnatal growth retardation and RS Birth weight 2 SDs below the mean
Clinical features of RS normal head circumference with appearance of hydrocephalus; triangular face; fifth-finger clinodactyly; limb-length asymmetry;
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
Clinical assessment for RS usually slim or underweight, normal head size but appears large because of small body; episodes of hypoglycemia; asymmetrical limbs
Testing for RS Cytogenetic analysis for dup 11p15.5, dup 7p11-12, maternal UPD 7, H19 methylation analysis
Created by: KChatham
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