Peds Flashcards
In what sex is pyloric stenosis more common?
Males
In what sex is cleft lip (with or without palate) more common?
Males
In what sex is clubfoot more common?
Males
In what sex is Hirschprung’s disease more common?
Males
In what sex is Legg-Perthes more common?
Males
In what sex are neural tube defects more common?
Females
In what sex are diaphragmatic hernia more common?
Female
In what sex is cleft palate alone more common?
Females
In what sex is scoliosis more common?
Females
In what sex is congenital hip dislocation more common?
Females
What is likely to be more important for the development of a more severe birth defect/condition?
Genetic influence is probably higher in more severe cases
If a multifactorial condition is due to a higher genetic influence, how does that affect recurrence risk?
The more genetic influence, the higher the recurrence risk
What is likely to be more important for the development of a birth defect in sex that is usually not affected by that birth defect?
Genetic influence/load is probably high if the less-frequently affected sex is affected
What increases recurrence risk for multifactorial conditions?
Closely related affected relative
Multiple affected relatives
More severe
Less affected sex is affected
What is the general recurrence risk for multifactorial conditions?
3-5%
What syndrome is associated with supravalular aortic stenosis?
William syndrome
What syndrome is associated with pulmonary valve stenosis (pulmonic stenosis)?
Noonan syndrome
What syndrome is Tetrology of Fallot associated with?
22q11.2 deletion
What syndrome is associated with coarctation of the aorta?
Turner syndrome
What are some environmental things that can affect birth defect risk?
teratogens
pre-existing maternal diabetes
infections
twins
oligohydramnios
What are some things that can indicated a birth defect is syndromic?
other dysmorphic features (may be subtle)
severity of birth defect
family history
developmental delays
other birth defects
seizures, major medical issues
Growth (recognize the effects the birth defect itself may have on growth)
What are some features of Saethre Chotzen syndrome?
Craniosynostosis (coronal suture)
abnormallly shaped head,
facial asymmetry,
ptosis
webbing between fingers and toes
What gene causes Saethre Chotzen syndrome?
TWIST
How is Saethre Chotzen syndrome inherited?
Autosomal dominant
What are some features of Goldenhar syndrome?
Facial asymmetry
Microtia (abnormal ear)
ear canal atresia ear tags,
skin tags
May also have:
hydrocephalus
scoliosis
heart defects
renal abnormalities
What causes Goldenhar syndrome?
No genes known may be sporadic Never really seen familially
What are the features of Van der Woude syndrome?
Cleft lip
Cleft palate
Cleft lip and palate
Lip pits
What gene is associated with Van der Woude syndrome?
IRF6
How is Van der Woude syndrome inherited?
Autosomal dominant
What are the features of Apert syndrome?
craniosynostosis
bilateral syndactyly in hands and feet (mitten hands)
Midface hypoplasia
Breathing issues
vertebral fusions
cleft palate
Pretty dysmorphic
What gene is associated with Apert syndrome?
FGF2
How is Apert syndrome inherited?
Autosomal dominant, mostly de novo
What syndromes are associated with advanced paternal age?
Apert syndrome
Achondroplasia
What syndrome(s) should you think of when you see an omphalocele?
Beckwith-Wiedemann
Trisomy
What syndrome is nevus flamus associated with and what is it?
Beckwith-Wiedemann
red birthmark on the face
What are the features of Sotos syndrome?
Large for gestational age
macrocephaly; frontal bossing
advanced bone age
developmental delay
May have heart & renal problems, scoliosis, seizures, and neonatal jaundice
Overgrowth syndrome
No increased risk for tumors
What are the features of Weaver syndrome?
tall stature
macrocephaly
developmental delay
doughy skin
joint problems
low coordination
abnormal cry
hernias
dysmorphic features
What are the features of Simpson-Golabi-Behmel syndrome?
Subernumerary nipples
Big (overgrowth)
coarse features
poly/syndactyly
vertebral anomales
tumor risk
pectus excavatum
developmental delays
seizures
brain malformations
What condition should you think of when you see a rhabdomyoma?
Tuberous sclerosis
What is the most common genetic cause of Angelman syndrome?
Maternal deletion involving UBE3A
What is the recurrence risk for Angelman syndrome?
-Deletion or UPD have a <1% recurrence risk
- as long as parents don’t have a rearrangement
- germline mosaicism can occur
- UBE3A or imprinting center defects have a 50% recurrence risk
- Can be inherited from an unaffected parent if they got it from their dad
What are features of achondroplasia?
Rhizomelia
developmental delay, normal intelligence
Relative macrocephaly (hydrocephaly possible), frontal bossing Trident shaped hands
Abnormal skin folds
hypotonia
foramen magnum constriction
GERD
Kyphosis, lordosis, spinal stenosis
flattened midface
obstructive apnea
hearing loss
Average height 4’4” male, 4’1” female
What gene is associated with achondroplasia?
FGFR3
How is achondroplasia inherited?
Autosomal dominant
What are the physical features of Kabuki syndrome?
curved eyebrows
large palpebral fissures,
downslanting hypotonic mouth
protruding ears 5th finger clinodactyly
prominent persistent fetal fingertip pads
depressed nasal tip
How are the majority of cases of Kabuki syndrome inherited?
Autosomal dominant, mostly de novo
Can be x-linked
What are some heath problems associated with Kabuki syndrome?
GI anomalies (anal atresia)
susceptibility to infections
seizures
feeding problems
hearing loss
renal anomalies
What are the features of LEOPARD syndrome?
Lentigines, cafe-au-lait
Ecg conduction abnormalities
Ocular hypertelorism
Pulmonic stenosis
Abnormal genitalia
Retardation of growth (short)
Deafness (sensorineural) (noonan spectrum)
How is LEOPARD syndrome inherited?
Autosomal dominant
What are the features of Noonan syndrome?
- Distinctive facial features (hypertelorism, ptosis, prominent forehead, short neck)
- Short stature
- pectus
- heart defect
- cryptorchidism
- feeding difficulties
- disordered breathing
- dental overcrowding
- easy bruising/bleeding
- delayed puberty
What kind of disorder is Noonan syndrome and how is it inherited?
Rasopathy
Autosomal dominant with incomplete penetrance
(30-75% of parents are affected)
What are the facial features of Rubenstein-Taybi syndrome?
Downturned palpebral fissures
slightly coarse features
low handing columella
grimacing smile
What are the features of Rubenstein-Taybi syndrome?
Broad fingers/thumbs
Decrease of size early in life
short stature
respiratory difficulties
failure to thrive
Heart defects
ID, DD, speech delay
Strabismus,
cataracts
Hyper/hypodontia
How is Rubestein-Taybi syndrome inherited?
Autosomal dominant, mostly de novo
What are the features of Russel-Silver syndrome?
Prominent forehead
Triangular facies
Short stature, IUGR
normal head circumference
Clinodactyly
asymmetry
abnormal pigmentation/CALs
Delays
GI disorders
What are the features of Smith-Lemli-Opitz?
Narrow forehead
ptosis
Microcephaly
hypotonia
short stature, FTT
abnormal genitalia/sex reversal in males
Malformations of the heart, lungs, kidneys, liver, GI
intellectual disability
2,3-toe syndactyly
What are the features of 1p36 deletion syndrome?
Intellectual disability, developmental delay, speech limited
hearing impairment
vision problems
seizures
heart defects
hypotonia, feeding problems
CNS & renal abnormalities
behavior issues
What are the facial features of 1p36 deletion syndrome?
deep set eye
pointed chin
low set ears
hypertelorism
midface hypoplasia
cleft lip/palate
What is the genetic cause of Miller-Dieker Syndrome?
17p13.3 deletion (includes LIS1 gene)
What are the features of Miller-Dieker syndrome?
- lissencephaly (smooth brain)
- +midline -calcification=pathognomonic)
- Intellectual disability (stay around 3-5mos)
- seizures
- IUGR, FTT, poor feeding, hypotonia
- omphalocele or umbilical hernia
- heart defects
- infantile spasms
- breathing problems
- bitemporal narrowing, thin vermillion
What is the genetic cause of Potocki-Lupski syndrome?
17p11.2 duplication with RAI1 gene duplication of same region as Smith-Magenis
What are the features of Potocki-Lupski syndrome?
poor feeding & oral motor skills
hypotonia (infancy),
FTT DD, ID, speech delay
short stature
sleep apnea
heart defects and disease
seizures
Autism, OCD, ADD
What are the facial features of Smith-Magenis syndrome?
Features progress over time
- square shaped face
- deep set eyes
- tented mouth
- dark eyebrows, synophrys
What is the cause of Smith-Magenis syndrome?
17p11.2 deletion, including RAI1 gene
What is the cause of Williams syndrome?
Deletion (rarely duplication) of 7q11.23
What are the features of Williams syndrome?
Heart defect (supravalvar aortic stenosis)
stellate iris,
periorbital fullness,
bitemporal narrowing
hoarse voice
hernia (inguinal, umbilical)
joint laxity, connective tissue abnormalities
ID
overly friendly
FTT, poor weight gain
endocrine abnormalities
What causes Wolf-hirshhorn syndrome?
4p16.3 deletion
What are the features of Tay Sachs disease?
Severe muscle weakness develops around 3-6 months
loss of motor skills
seizures
vision loss
hearing loss
startled by loud noises
intellectual disability
paralysis
cherry red spot
die in childhood
What gene is associated with Tay Sachs disease?
HEXA
What are the features of Krabbe disease?
Loss of myelin
Starts with
- irritability,
- weakness,
- slowed development,
- fevers without infection
Progresses to
- more severe weakness,
- stiffness/contractures,
- problems eating and breathing
Seizures
Vision loss
If can diagnose before symptoms, can treat with stem cell transplant
