Syndromes, Embryology, Prematurity Flashcards
10-11th weeks of development, tongue is pulled down into its position allowing fusion of palate
Pierre Robin Sequence
Posterior displacement of tongue preventing closure of palate
Often presents with 3 abnormalities:
micrognathia, glossoptosis and cleft palate
Pierre Robin Sequence
Small birth weight
Small physical features: short palpebral fissure, smooth philtrum, thin upper lip
Developmental delays and congenital abnormalities of organs
Fetal Alcohol Syndrome
Characterized by females with absent or nonfunctional X chromosomes
Turner’s Syndrome
Short stature, webbed neck, broad chest
Ovarian insufficiency due to hypogonadism
Cardiac defects in 50%”
Turner’s Syndrome
How do you diagnose Turner’s Syndrome?
Karotyping (definitive dx)
Low Testosterone
High FSH + LH + Estradiol
How do you manage Turner’s Syndrome?
Testosterone for hypogonadism symptoms
X-linked disorder associated with loss of function FMR1 gene
Fragile X Syndrome
Most common gene-related cause of ASD
Fragile X Syndrome
Long narrow face, large ears, flexible fingers, and enlarged testes
Fragile X Syndrome
Cardiac anomalies
Hypoplastic or absent thymus and abnormal T cell fx
Hypocalcemia
Palatal and laryngeal abnormalities
22Q11.2 Deletion (DiGeorge)
Common features: posteriorly rotated ears bulbous nasal tip hooded eyelids micrognathia
22Q11.2 Deletion (DiGeorge)
Caudal Neuropore fails to close. Leads to non-fusion of vertebrae overlying spinal cord, and spinal cord protrusion through the opening most often at lumbar/sacral region
Spina bifida
Cranial Neuropore fails to close
Anencephaly
Risk factors of neural tube defects
Maternal folate deficiency
Derivatives of all 3 germ layers with a bizarre mixture of tissue types (all layers)
Remnants of the primitive streak
Sacrococcygeal Teratoma (SCT)
What is associated with gastrulation?
Sacrococcygeal Teratoma (SCT)
What is the MC tumor in newborns?
Sacrococcygeal Teratoma (SCT)
How do you dx and tx a Sacrococcygeal Teratoma (SCT)
Dx: Prenatally with routine US
Tx: Surgical excision through hysterotomy during pregnancy
Herniation of intracranial contents
Encephalocele
Where are encephaloceles most commonly found?
Occipital region
Midgut loop fails to return to abdominal cavity
Omphalocele
Pale, shiny sac protrudes from base of umbilical cord
Omphalocele
Group of heritable disorders that affect ectoderm in a developing baby
Ectodermal dysplasia (ED) Syndromes
Deficiency of hair, nails, teeth, sweat glands
Often malformed teeth and extremely sparse hair
Ectodermal dysplasia (ED) Syndromes
Herniation of abdominal contents into pleural cavity
Congenital Diaphragmatic Hernias
Caused by failure of pleuroperitoneal membranes to fuse with other components
Congenital Diaphragmatic Hernias
Where are Congenital Diaphragmatic Hernias most commonly found?
L posterolateral side
Flat abdomen, breathlessness, cyanosis
Congenital Diaphragmatic Hernias
Failure of anterior abdominal wall musculature to close during folding
Gut contents not surrounded by membrane”
Gastroschisis
Failure of vitelline duct to close.
Ileal diverticulum
2% prevalence
Location 2ft proximal to ileocecal valve in adults
Half of those who are symptomatic are younger than 2yo
Ileal diverticulum
Congenital aganglionic megacolon
Hirchsprung’s disease
Failure of migration of neural crest cells that form the colonic ganglion cells.
Hirchsprung’s disease
Why is having Hirchsprung’s disease so problematic?
Without parasympathetic innervation, colon cannot relax or undergo peristalsis, resulting in functional obstruction.
Abnormal blood supply: usually from middle sacral or common iliac arteries
Renal Fusion
This prevents normal rotation
Renal Fusion
Ectopic kidney: may also be crossed with/without fusion
Horseshoe kidney
Renal Fusion
Most renal fusions are found where?
90% fused at lower pole
Usually found inferior to inferior mesenteric artery
When ectopic ureters enter the male genital tract, what are we most concerned for?
epididymorchitis
Increased width between eyes, flattening of nose, large low-set ears
Potter Facies
Potter Facies is most commonly found in which embryologic developmental problem?
Renal Agenesis
Normal respiratory rate for <12 month
30-60 bpm
Normal respiratory rate for 1-2 years
24-40 bpm
Normal O2 Saturation on RA for pediatric patients
greater than/equal to 92%
Define the category of a term baby
37-42 weeks
Define the category of a late preterm baby
34-37 weeks
Define the category of a moderate preterm baby
32-34 weeks
Define the category of a very preterm baby
28-32 weeks
Define the category of an extremely preterm baby
<28 weeks
A newborn has increased O2 demand, so as their provider, you decide to see what’s going on and order a CXR. You notice a reticulogranular pattern with ground glass opacities and air bronchograms. What is the most likely diagnosis and how would you treat it?
Respiratory distress syndrome - MC disorder in premies!
Tx:
- antenatal: steroids
- postnatal: surfactant
A neonate’s parent complains of bloody stool and abdominal distension. How would be the next best step in managing this patient?
Necrotizing enterocolitis
Dx: XR = pneumatosis intestinalis (air in intestinal wall)
Tx: NPO, IV antibiotics
A premie of 31 weeks is delivered. What’s the protocol?
Do an eye exam to check for retinopathy of prematurity at 4 weeks.
Do a cranial U/S to check for intraventricular hemorrhage at 4 weeks.
A premature infant is set to be sent home once they reach their corrected age. What are the goals the must be met in order for them to be sent home?
- maintain O2 sat on room air without bradycardia
- PO feedings + weight gain
- temperature maintenance in an open crib
A premature infant is sent home. As their PCP, what must you do?
- Immunizations based on chronological age
- Growth assessment - these are adjusted until 2 YO
- Milestones + neurodevelopmental assessment via the Bayley or Denver II scale
When can a patient:
- start pubertal suppression?
- start hormone therapy?
- have sex reassignment surgery?
- pubertal suppression: Tanner 2
- hormone therapy: 16 yo
- sex reassignment surgery: 18 yo
What BMI percentile is considered overweight?
85-94th
What BMI percentile is considered obese?
95+
What are some early signs that a child may have ASD?
No joint attention by 12-15 months
No babbling/pointing by 12 months
No word by 16 months
No 2-word phrases by 24 months
When is ASD specific screening done? What tool is used?
18 and 24 months
MCHAT
Chorioretinitis - Bilateral inflammation of the choroid and retina of the eye
Intracranial calcifications
Hydrocephalus
Toxoplasmosis
fever
low birth weight
Rash
Hutchinson’s triad - what is it?
Dx and Tx
Hutchinson’s triad: peg shaped teeth, keratitis, sensorineural hearing loss
Syphilis
Dx: PCN
cataracts
heart disease
blueberry muffin skin
microcephay
congenital rubella
MC congenital viral infection
sensorineural hearing loss
cytomegalovirus
Acute rheumatic fever criteria
JONES
Joints Oh, no carditis Nodules erythema marginatum sydenham's chorea
