Pediatrics - Dysmorphic child Flashcards
During which weeks does organogenosis occur? Why is this significant?
- 3-8 weeks
- More susceptible to the effects of teratogens
Which anticonvulsant is the most toxic to a developing fetus
Valproic acid
Which Torch infection is commonly spread from cat litter?
Toxoplasmosis
What is the classic triad of toxoplasmosis
- hydocephalus
- intracerebral calcification (occuring in the ventricles - center)
- microcephaly
- retinal changes also occur (retinitis)
What is different about the calcifications in the brain between CMV and toxoplasmosis?
Toxoplasmosis - ventricular calcifications
CMV - periventricular (on the outside and lateral)
Which TORCH infections can cause symmetric IUGR?
- All of them. Baby exposed early before anything develops resulting in uniform growth restriction
How do you test for CMV?
Urine culture for CMV
Sensorineural hearing loss is associated with which TORCH infection?
CMV
What are hutchinson teeth and what are they associated with?
- associated with syphilis
-
What are early signs of congenital syphilis
- A form of rhinitis (syphilis = sniffles)
- Rash
- Microcephaly
- IUGR
- Hepatosplenomegaly
- Osteochondritis
What is the classic triad of rubella
- Congenital cataracts
- Cardiac abnormalities (PDA)
- Deafness
What does a PDA murmur sound like?
- “Machinery” murmur
How does a neonate get HSV?
Acquired in peripartum period in 85% of cases
What is one clinical finding that can help differentiate disseminated HSV infection from neonatal sepsis?
- Skin lesions, seen in 75% of cases
What would you suspect in a newborn with conjunctivitis? at 24 hours vs if at 48+ hours
- 24 hours: chemical conjunctivitis from erythromycin ointment
- 48+ gonorrhea or chlamydia
How can you differentiate Gonorrhea from Chylamidia using gram stain?
- Gonorrhea will gram stain
- Chylamida does nto
What is the most common preventable cause of intellectual disability?
- FASD
What differentiates (is unique) to FASD from Down syndrome?
- Indistinct philtrum
- Thin upper lip
- Nose short
- Flat midface
- Short palpebral fissures
With a kid born with amputated digits what is the most likely cause?
Amniotic band constriction
What is cretinism?
Lack of thyroxine from or before birth
What is a unique feature of untreated congenital hypothyroidism
- MACROGLOSSIA (big tongue)
Other features of congenital hypothyroidism
- jaundice
- poor feeding
- macroglossia
- large fontonelles
- course facial features
- mental retardation
- Short stature
Ultrasound findings in turner syndrome that can lead to diagnosis
- Cystic hygroma
- Other features in newborn:
- swollen hands and feet
- wide set nipples
- webbed neck and extra skin
- low posterior hairline
Manifestations of Fragile X syndrome
- Cognitive difficulties
- Attention and Behaviour problem
- MACRO-ORCHIDISM
- FACIAL DYSMORPHOLOGIES (LARGE FOREHEAD)
- Connective tissue (hyper mobile joints)
True or false fragile X is a trinucleotide repeat disorder?
True
- Fragile X as repeats accumulate the disease occurs earlier and earlier in family pedigrees.
Differences in the testes of someone with fragile X vs Kleinfelter syndrome?
- Fragile X: large testes
- Kleinfelter: lil testes
Why do those with kleinfelter syndrome develop true gynecomastia (hormones)
- High estrogen paired with low levels of androgen
One large distinguishing aspect of Marfan syndrome is what?
- Subluxation of the lens, retinal detachment and cataract
What are features of Marfans syndrome?
- Tall and Skinny
- Long arms and legs
- Long fingers and toes
- Dissecting aortic aneurism (due to defective fibrin)
- Floppy valves in heart
- SUBLUXATION OF LENS
- Elongated head with cerebral bossing
Who is affected by Kleinfelters and what is the karyotype?
- Men
- 47 XXY
What does someone with Kleinfelters look like pre-puberty?
- Normal
After puberty what features occurs in Kleinfelter syndrome?
- Gynecomastia
- Female pattern pubic hair
- Hypo-gonadism
In a pt in whom you suspect Kleinfelter syndrome what test do you do to confirm?
Karyotype, most commonly see 47 XXY male
When does the neural cord close?
- 4 weeks
What is a meningocele?
Meninges herniates through opening
What is a myelomeningocele?
- The meninges and the spinal cord herniates through the defect.
What supplements are used to help prevent neural tube defects?
- Folic acid. Ideally starting at least 3 months prior to conception.
What are distinctive features of down syndrome?
- Brushfeild spots
What are features of down syndrome
- Single palmar crease
- Short 5th finger that curves inward
- Widely separated first and second toes
What medical condition are individuals with Downs predisposed to? (list 5)
-Genetic
Dysmorphic features, mental retardation
-GI
Tracheo-esophageal fistula, duodenal atresia/stenosis, annular pancrease, malrotation, and volvulus
-Cardiac
Endocardial cushion defects, PDA, tetralogy and multiple defects
What are the features on physical exam suggestive of the condition (Down syndrome)? (List 5)
Microcephaly, flattening of both occiput and face
Upward slant to eyes, epicanthal folds
Brushfield spots in eyes
Small ears and mouth
Low set ears
Flat nasal bridge
Broad stocky neck, with loose skin folds at the nape
Funnel shaped or pigeon-breasted chest
Small, stubby feet, hands and digits, with brachyclinodactily of fifth digits
Single tranverse palmer crease on each hand (simian crease)
Wide space between first and second toes
Fair mottled skin in newborns, dry skin in older children
Hypotonia
- 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
- Endocrine
Congenital hypothyroidism, diabetes, hypo/hyper thyroidism
- Eyes
Strabismus, refractive error, keratoconus and straphyloma, premature cataracts
- MSK
Hypotonic, dysplastic hips, atlanto-axial instability leading to subluxation, degenerative disease of the cervical spine
- Immunology
Hep B carrier state leading to cirrhosis and carcinoma of the liver, chronic tinea pedis and tinea unguium, thyroid dysfunction, leukemia
- Neuro/psych
Seizures, depression, dementia (Alzheimer’s type)
- Behaviour
Non complaince, aggression, self injurious behaviour
- Dental
Delayed/abnormal eruption of teeth, gingivitis, periodontal disease, malocclusion, bruxism
A 38 week gestation male infant was precipitously delivered vaginally in the emergency department . Weight and head circumference are less than 5th percentile, and length at 10th percentile. He has heptosplenomegaly and petechial rash. Notable laboratory results include platelets of 22,000 and elevated total and direct bilirubin levels. CT of the head shows bilaterals intracranial calcification with several around the basal ganglia and obstructive hydrocephalus. Ophthamologic examination reveals chorioretinits. What is the most likely cause of the patient’s findings?
CMV Rubella Toxoplasmosis gondii Herpes simplex Treponema pallidum
Toxoplasmosis gondii
What would a positive maternal serum screen for Down Syndrome be?
- Decreased Alpha Feta Protein
- Decreased Estradiol
- Increased B-HCG
What would a postive maternal serum screen for Edwards syndrome be?
- Decreased Alpha Feta Protein
- Decreased Estradiol
- Decreased B-HCG
What is the most common chromosomal abnormality in Down Syndrome?
(apparently wont be tested)
Trisomy 21
- 95% non-disjunction
- 3-4% translocation (of these 75% new mutation and 25% familial so check parents)
- 1-2% mosaic
