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Dysmorphology

PTEN, Sotos, Williams, RS, etc.

Question	Answer
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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