Dysmorphism Flashcards
What is the most common preventable cause of intellectual disability
FASD
How do you dx FASD
maternal drinking
What are all the dysmorphisms seen in FASD (8)
low nasal bridge, minor ear abnormalities, indistinct phlitrum, micrognathia, epicanthial folds, short palpebral fissures, thin upper lip, fat mid face and short nose
What are the discriminating features of FASD? (5)
short palpebral fissures, flat mid face, short nose, indistinct philtrum, thin upper lip
What are the associated features of FASD?
Epicanthial folds, low nasal bridge, minor ear abnormalities, micrognathia
What are the S&S of untreated congenital hypothyroidism
jaundice, poor feeding, hypotonia, macroglossia (large tongue), large fontanelles, delayed closure, course facial features, MR, short stature
What do amniotic bands do?
The bands rupture and flick off and can amputate a digit or constrict it
What is cretinism
severe hypothyroidism in the newborn
What causes cretinism?
lack of thyroxine form birth, or before birth. Could be from lack of thyroid gland or lack of iodine in mother
What is one of the key signs of cretinism
macroglassia
What are some keys of turners syndrome
lymphatic swelling (hands/feet), wide set nipples, webbed neck and extra skin, low posterior hairline, discoloured spots on skin
What is seen in utero with turners syndrome
cystic hygroma
What is similar to turners in males?
noonans syndrome
What is the incidence of fragile X syndrome
1:4000 in males
What are the clinical manifestations in fragile x syndrome?
cognitive difficulties, attention and behavioural problems, macroorchidism, mild facial dysmorphologies, CT abnormalities (hyper extensible), anticipation (repeat disorders)
Kinefelters has what kind of testes?
Microorchidism?
What are the clinical manifestations of Marfans syndrome?
Tall, skinny, long arms, long legs, long fingers, long toes, chest cavity
Are there sx of klinefelters pre pubertal?
no
what are the hormonal abnormalities in klinefelters?
low androgens, too much estrogen
What are two “drugs” that have been linked to gynecomatia?
etoh, marijuana
Clinical manifestations of Klinefelters?
gynecomastia, microorchidism
What is the most common karyotype in klinefelters
47 XXY
What are the three types of spina bifida?
Occulta (hair tuft), Meningocele (no nerves out), myelomeningocele (nerves out
What is one workup for gynecomastia and microorchidism?
karyotyping
at what week does the neural cord close?
4 weeks
Failure of the neural lord to close causes what?
spina bifida
What is anencephaly?
when the cranioneural cord doesn’t develop
What is a meningocele?
when the meninges herniate
What is a myelomeningocele?
when the meninges and spinal cord herniate
how do you prevent?
screen in utero via US mom takes folic acid
What is the normal dose of folic acid prenatally?
0.4mg
What are the key features of downs syndrome?
single palmar crease, widely separated first and second toes and increased skin spaces, flattened nose and face, upward slanting eyes, brush fields spots
What is the one feature of downs that is very important to know?
Brushfields spots
What medical condition are individuals with Downs predisposed to (GENETIC)
Genetic;
Dysmorphic features, mental retardation
What medical condition are individuals with Downs predisposed to (GI)
GI;
Tracheo-esophageal fistula, duodenal atresia/stenosis, annular pancrease, malrotation, and volvulus
What medical condition are individuals with Downs predisposed to (CARDIAC)
Cardiac;
Endocardial cushion defects, PDA, tetralogy and multiple defects
What medical condition are individuals with Downs predisposed to (ENT)
ENT
Recurrent external and middle ear infections (mostly serous – Glue ear), narrow ear canals, hearing problems, increased incidence serous otitis, impacted cerumen, dry skin, upper respiratory disease and pneumonia, sleep apnea
What medical condition are individuals with Downs predisposed to (endocrine)
Endocrine
Congenital hypothyroidism, diabetes, hypo/hyper thyroidism
What medical condition are individuals with Downs predisposed to (optho)
Eyes
Strabismus, refractive error, keratoconus and straphyloma, premature cataracts
What medical condition are individuals with Downs predisposed to (MSK)
MSK
Hypotonic, dysplastic hips, atlanto-axial instability leading to subluxation, degenerative disease of the cervical spine
What medical condition are individuals with Downs predisposed to (Immunology)
Immunology
Hep B carrier state leading to cirrhosis and carcinoma of the liver, chronic tinea pedis and tinea unguium, thyroid dysfunction, leukemia
What medical condition are individuals with Downs predisposed to (Neuropsych)
Neuro/psych
Seizures, depression, dementia (Alzheimer’s type)
What medical condition are individuals with Downs predisposed to (behaviour)
Behaviour
Non complaince, aggression, self injurious behaviour
What medical condition are individuals with Downs predisposed to (Dental)
Dental
Delayed/abnormal eruption of teeth, gingivitis, periodontal disease, malocclusion, bruxism
What would a positive maternal serum screen for Down Syndrome be? (List test components)
Maternal serum screen:
AFP decreased
Estradiol decreased
B-HCG increased
What would a positive maternal serum screen for Edwards be? (List test components)
Edwards- all down
