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Peds > Fetal Development > Flashcards

Fetal Development Flashcards

1
Q

What does the mesonephric (Wolffian) duct form?

A

Ureters
Males: epididymis, vas deferens, seminal vesicles

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2
Q

What does the paramesonephric (Mullerian) duct form?

A

Uterus, fallopian tubes, cervix, upper 1/3 vagina

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3
Q

What is the common embryologic source of the mesonephric and paramesonephric ducts?

A

Intermediate mesoderm

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4
Q

Smoking does what to newborn?

A

Fetal growth restriction
Irritability
Hypertonicity

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5
Q

CHARGE syndrome

A

Coloboma
Heart defects (TOF, VSD)
Atresia choanae
Retardation of growth/development
Genitourinary anomalies (e.g. cryptorchidism)
Ear abnormalities (eg hearing loss)

Anosmia
Cleft lip/palate
Hypotonia

Diagnose with clinical or CHD7 gene testing

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6
Q

Management of CHARGE syndrome

A

Place oral airway for respiratory support if choanal atresia
Screening echocardiogram
Renal ultrasound

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7
Q

What is indicated by cyanosis at rest or feeding, while it improves when crying?

A

Choanal atresia

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8
Q

DiGeorge syndrome

A

Heart defects (eg interrupted aortic arch)
Hypocalcemia
Thymic hypoplasia
Low-set, posteriorly-rotated ears
Ocular hypertelorism

Chromosome 22q11.2 microdeletion

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9
Q

Fanconi anemia

A

Inherited bone marrow failure due to defective DNA repair

Pancytopenia
Developmental delay
Short stature
Hypoplastic thumbs

Abnormal skin pigmentation
Abnormal ears
Heart defects
Genital abnormalities

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10
Q

What is size of Fanconi anemia RBCs?

A

Macrocytic - due to fetal erythropoiesis during periods of chronic hematopoietic stress

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11
Q

How is Fanconi anemia diagnosed?

A

Demonstrate chromosomal breakage following DNA exposure to interstrand crosslinking agents

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12
Q

Trisomy 13

A

Colobomas
Microphthalmia
Cleft lip/palate
Microcephaly
Heart defects
Cryptorchidism
Cutis aplasia
Polydactyly
Rocker-bottom feet

Midline defects:
Holoprosencephaly
Omphalocele

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13
Q

VACTERL syndrome

A

Vertebral
Anal atresia
Cardiac
Tracheoesophageal fistula
Renal
Limb

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14
Q

Trisomy 18

A

Prominent occiput
Low-set ears
Micrognathia
Heart defects (VSD most common)
Clenched hands with overlapping fingers
Kidney defects
Limited hip abduction
Rocker-bottom feet

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15
Q

Cri-du-chat syndrome

A

5p deletion:
cat-like cry
characteristic protruding metopic suture
Hypotonia
Short stature
Hypertelorism
Wide and flat nasal bridge
intellectual disability

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16
Q

Turner syndrome comorbidities

A

Cardiovascular: Aortic coarctation, bicuspid aortic valve, aortic dilatation/dissection

Vision and hearing: Strabismus, myopia, recurrent otitis media, hearing loss

Autoimmune: Celiac disease, hypothyroidism

Osteoporosis

Horseshoe kidney

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17
Q

Turner syndrome vision and hearing defects

A
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18
Q

What are Turner syndrome signs in infant?

A

Lymphedema (extremities), cystic hygroma (in head/neck area)
Dysplastic nails
Horseshoe kidney, aortic coarctation, bicuspid aortic valve

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19
Q

Turner syndrome treatment

A

Growth hormone
Estrogen +/- progestin

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20
Q

Cleft palate increases risk of what?

A

Middle ear disease and cholesteatoma

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21
Q

Risk factors for cholesteatoma

A

Recurrent AOM
Chronic middle ear effusions
Tympanostomy tubes

22
Q

What would cause concave abdomen and barrel chest in newborn?

A

Congenital diaphragmatic hernia
Endotracheal intubation, nasogastric tube, and surgical correction

23
Q

What is a positive congenital heart screen (right arm, either leg) requiring echo?

A

<90% in either extremity
<95% in both extremities
>3% difference in extremities

24
Q

Describe the cardiomyopathy of infants with diabetic mothers
Treatment?

A

Hypertrophic, thick IV septum (glycogen and fat), small LV
IV fluids, beta-blockers to increase blood volume (only needed in neonatal period)

25
Q

Prader-Willi syndrome signs

A

Hypotonia
Weak suck/feeding –> Hyperphagia/obesity
Short, hypogonadism (due to hypothalamic/pituitary dysfunction)
Intellectual disability
Narrow forehead, almond-shaped eyes, downturned mouth

26
Q

Prader-Willi diagnosis, complications

A

Diagnosis: loss of expression on paternal chromosome 15 (q11-q13)

Complications: Sleep apnea, T2DM, gastric distension/rupture, death by choking

27
Q

Phenylketonuria - gene, signs

A

Phenylalanine hydroxylase

Seizures, microcephaly, intellectual disability
Fair complexion, eczema
Musty body odor

28
Q

Beckwith-Wiedemann signs

A

Macrosomia
Hemihyperplasia
Omphalocele
Macroglossia

29
Q

What is difference between Niemann-Pick and Tay-Sachs?

A

Niemann-Pick - sphingomyelinase deficiency; hepatosplenomegaly; areflexia

Tay-Sachs - beta-hexosaminidase A deficiency; hyperreflexia

Both age onset 2-6 months, autosomal recessive Ashkenazi, cherry-red macula, loss of motor milestones, hypotonia, feeding difficulties

30
Q

Beyond what age in males do you refer for orchiopexy if unilateral undescended testis?

A

> =6 months of age

If bilaterally palpable, same as above

If bilaterally unpalpable, evaluate for sex development disorders:
Karyotype, pelvic ultrasound, adrenal/gonadal hormones

31
Q

What is Albright hereditary osteodystrophy? Signs?

A

Congenital pseudohypothyroidism (end-organ unresponsiveness to PTH)
Short metacarpal bones, short stature, round facies

32
Q

Rett syndrome is which gene?

A

MECP2 - speech regression, abnormal gait, loss of purposeful hand movements (eg repetitive hand wringing)

Regression begins after 6 months

Seen in girls

33
Q

Signs of Rett

A

Speech regression
Loss of purposeful hand use, sterotyped movements
Gait abnormalities

Microcephaly
Seizures
Breathing abnormalities
Sleep disturbance
Autistic features

34
Q

Which chromosome is Huntington?

A

4p CAG trinucleotide repeat expansion

35
Q

What is Angelman syndrome?

A

Neurodevelopmental disorder - absence of maternal UBE3A gene

Repetitive hand flapping, jerky gait, happy demeanor, developmental delay
Seizures

36
Q

Which syndrome is characterized by self-mutilation in early childhood?

A

Lesch-Nyhan syndrome - X-linked recessive deficiency of hypoxanthine-guanine phosphoribosyltransferase –> hypoxanthine and uric acid accumulation

Along with:
Delayed milestones and hypotonia in infancy
Extrapyramidal and pyramidal symptoms
Gouty arthritis in late, untreated disease

37
Q

Friedreich ataxia - gene, signs

A

GAA repeat in frataxin protein - affects brain, heart, pancreas

Neurologic dysfunction - gait and limb ataxia in adolescence, loss of position/vibration
Hypertrophic cardiomyopathy - arrhythmia, HF, sudden death
Diabetes
Skeletal - kyphoscoliosis, pes cavus

38
Q

Diamond-Blackfin anemia - signs

A

Defect of erythroid progenitors

Craniofacial abnormalities (cleft palate)
Triphalangeal thumbs
Increased risk of malignancy
Macrocytic anemia
Reticulocytopenia

Corticosteroids
RBC transfusions

39
Q

WAGR

A

Wilms tumor (bilateral and earlier (age 1-3) than in isolation - screen every 3 mo
Aniridia
Genitourinary abnormality
Retardation/intellectual disability

40
Q

What electrolyte may be low in a neonate with fetal growth restriction?

A

Hypocalcemia - placental dysfunction decreases Ca transfer to fetus

41
Q

Sturge-Weber syndrome - signs

A

Neurocutaneous disorder - leptomeningeal capillary-venous malformations of brain and eye
Facial port-wine stain

42
Q

Homocystinuria - gene, treatment

A

Cystathionine synthase deficiency –> errors in methionine metabolism –> elevated homocysteine and methionine

Treatment: Vitamin B6, folate, B12
Antiplatelets or anticoagulation

43
Q

What signs are in homocystinuria but not Marfan syndrome?

A

Fair hair and eyes
Developmental delay
Cerebrovascular accident - due to pathologic changes in vessel walls, increased adhesiveness of platelets

44
Q

Fabry disease - gene, signs

A

Alpha-galactosidase deficiency

Angiokeratomas (hard bumps on skin)
Peripheral neuropathy
Asymptomatic corneal dystrophy
Heart failure
Renal failure
Risk of thromboembolic events

45
Q

Krabbe disease - gene, signs

A

Autosomal recessive LSD - galactocerebrosidase deficiency

Intellectual disability
Blindness, deafness
Paralysis, neuropathy, seizures

46
Q

Hurler syndrome - signs

A

LSD

Dysostosis multiplex - shortened and thickened long bones, other skeletal findings
Coarse facial features (wide nasal bridge, flat midface)
Developmental delay
Frequent infections

47
Q

Osteogenesis imperfecta - gene, signs

A

Type I collagen

Frequent fractures –> minor trauma, blue sclera, conductive hearing loss, dentinogenesis imperfecta (opalescent blue-gray or yellow-brown discoloration of teeth, hypermobile joints

48
Q

Ehlers-Danlos - gene, signs

A

Type V collagen

Joint hypermobility, but not recurrent fractures

49
Q

Important management in homocystinuria

A

Anticoagulation due to hypercoagulability

50
Q

What genetic disorder is X-linked dominant?

A

Fragile X

51
Q

What genetic disorders are imprinting disorder (deletion of paternal part)?

A

Angelman
Beckwith-Wiedemann
Prader-Willi - deletion of paternal 15q11-q13

52
Q

Omphalocele is seen in…

A

Beckwith-Wiedemann, trisomies

Peds (25 decks)

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