Syndromes, Embryology, Prematurity Flashcards by Samar Azzaidani

10-11th weeks of development, tongue is pulled down into its position allowing fusion of palate

Pierre Robin Sequence

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Posterior displacement of tongue preventing closure of palate

Often presents with 3 abnormalities:
micrognathia, glossoptosis and cleft palate

Pierre Robin Sequence

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Small birth weight

Small physical features: short palpebral fissure, smooth philtrum, thin upper lip

Developmental delays and congenital abnormalities of organs

Fetal Alcohol Syndrome

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Characterized by females with absent or nonfunctional X chromosomes

Turner’s Syndrome

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Short stature, webbed neck, broad chest

Ovarian insufficiency due to hypogonadism

Cardiac defects in 50%”

Turner’s Syndrome

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How do you diagnose Turner’s Syndrome?

Karotyping (definitive dx)

Low Testosterone

High FSH + LH + Estradiol

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How do you manage Turner’s Syndrome?

Testosterone for hypogonadism symptoms

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X-linked disorder associated with loss of function FMR1 gene

Fragile X Syndrome

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Most common gene-related cause of ASD

Fragile X Syndrome

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Long narrow face, large ears, flexible fingers, and enlarged testes

Fragile X Syndrome

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Cardiac anomalies

Hypoplastic or absent thymus and abnormal T cell fx

Hypocalcemia

Palatal and laryngeal abnormalities

22Q11.2 Deletion (DiGeorge)

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Common features: 
posteriorly rotated ears
bulbous nasal tip
hooded eyelids
micrognathia

22Q11.2 Deletion (DiGeorge)

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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

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Cranial Neuropore fails to close

Anencephaly

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Risk factors of neural tube defects

Maternal folate deficiency

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Derivatives of all 3 germ layers with a bizarre mixture of tissue types (all layers)

Remnants of the primitive streak

Sacrococcygeal Teratoma (SCT)

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What is associated with gastrulation?

Sacrococcygeal Teratoma (SCT)

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What is the MC tumor in newborns?

Sacrococcygeal Teratoma (SCT)

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How do you dx and tx a Sacrococcygeal Teratoma (SCT)

Dx: Prenatally with routine US

Tx: Surgical excision through hysterotomy during pregnancy

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Herniation of intracranial contents

Encephalocele

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Where are encephaloceles most commonly found?

Occipital region

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Midgut loop fails to return to abdominal cavity

Omphalocele

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Pale, shiny sac protrudes from base of umbilical cord

Omphalocele

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Group of heritable disorders that affect ectoderm in a developing baby

Ectodermal dysplasia (ED) Syndromes

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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 ```