Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Peds > Fetal Development > Flashcards

Fetal Development Flashcards

1
Q

What does the mesonephric (Wolffian) duct form?

A

Ureters
Males: epididymis, vas deferens, seminal vesicles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What does the paramesonephric (Mullerian) duct form?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Intermediate mesoderm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Smoking does what to newborn?

A

Fetal growth restriction
Irritability
Hypertonicity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Management of CHARGE syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

Choanal atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is size of Fanconi anemia RBCs?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How is Fanconi anemia diagnosed?

A

Demonstrate chromosomal breakage following DNA exposure to interstrand crosslinking agents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Trisomy 13

A

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

Midline defects:
Holoprosencephaly
Omphalocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

VACTERL syndrome

A

Vertebral
Anal atresia
Cardiac
Tracheoesophageal fistula
Renal
Limb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Turner syndrome vision and hearing defects

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Turner syndrome treatment

A

Growth hormone
Estrogen +/- progestin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Cleft palate increases risk of what?

A

Middle ear disease and cholesteatoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
Prader-Willi syndrome signs
Hypotonia Weak suck/feeding --> Hyperphagia/obesity Short, hypogonadism (due to hypothalamic/pituitary dysfunction) Intellectual disability Narrow forehead, almond-shaped eyes, downturned mouth
26
Prader-Willi diagnosis, complications
Diagnosis: loss of expression on paternal chromosome 15 (q11-q13) Complications: Sleep apnea, T2DM, gastric distension/rupture, death by choking
27
Phenylketonuria - gene, signs
Phenylalanine hydroxylase Seizures, microcephaly, intellectual disability Fair complexion, eczema Musty body odor
28
Beckwith-Wiedemann signs
Macrosomia Hemihyperplasia Omphalocele Macroglossia
29
What is difference between Niemann-Pick and Tay-Sachs?
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
Beyond what age in males do you refer for orchiopexy if unilateral undescended testis?
>=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
What is Albright hereditary osteodystrophy? Signs?
Congenital pseudohypothyroidism (end-organ unresponsiveness to PTH) Short metacarpal bones, short stature, round facies
32
Rett syndrome is which gene?
MECP2 - speech regression, abnormal gait, loss of purposeful hand movements (eg repetitive hand wringing) Regression begins after 6 months Seen in girls
33
Signs of Rett
Speech regression Loss of purposeful hand use, sterotyped movements Gait abnormalities Microcephaly Seizures Breathing abnormalities Sleep disturbance Autistic features
34
Which chromosome is Huntington?
4p CAG trinucleotide repeat expansion
35
What is Angelman syndrome?
Neurodevelopmental disorder - absence of maternal UBE3A gene Repetitive hand flapping, jerky gait, happy demeanor, developmental delay Seizures
36
Which syndrome is characterized by self-mutilation in early childhood?
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
Friedreich ataxia - gene, signs
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
Diamond-Blackfin anemia - signs
Defect of erythroid progenitors Craniofacial abnormalities (cleft palate) Triphalangeal thumbs Increased risk of malignancy Macrocytic anemia Reticulocytopenia Corticosteroids RBC transfusions
39
WAGR
Wilms tumor (bilateral and earlier (age 1-3) than in isolation - screen every 3 mo Aniridia Genitourinary abnormality Retardation/intellectual disability
40
What electrolyte may be low in a neonate with fetal growth restriction?
Hypocalcemia - placental dysfunction decreases Ca transfer to fetus
41
Sturge-Weber syndrome - signs
Neurocutaneous disorder - leptomeningeal capillary-venous malformations of brain and eye Facial port-wine stain
42
Homocystinuria - gene, treatment
Cystathionine synthase deficiency --> errors in methionine metabolism --> elevated homocysteine and methionine Treatment: Vitamin B6, folate, B12 Antiplatelets or anticoagulation
43
What signs are in homocystinuria but not Marfan syndrome?
Fair hair and eyes Developmental delay Cerebrovascular accident - due to pathologic changes in vessel walls, increased adhesiveness of platelets
44
Fabry disease - gene, signs
Alpha-galactosidase deficiency Angiokeratomas (hard bumps on skin) Peripheral neuropathy Asymptomatic corneal dystrophy Heart failure Renal failure Risk of thromboembolic events
45
Krabbe disease - gene, signs
Autosomal recessive LSD - galactocerebrosidase deficiency Intellectual disability Blindness, deafness Paralysis, neuropathy, seizures
46
Hurler syndrome - signs
LSD Dysostosis multiplex - shortened and thickened long bones, other skeletal findings Coarse facial features (wide nasal bridge, flat midface) Developmental delay Frequent infections
47
Osteogenesis imperfecta - gene, signs
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
Ehlers-Danlos - gene, signs
Type V collagen Joint hypermobility, but not recurrent fractures
49
Important management in homocystinuria
Anticoagulation due to hypercoagulability
50
What genetic disorder is X-linked dominant?
Fragile X
51
What genetic disorders are imprinting disorder (deletion of paternal part)?
Angelman Beckwith-Wiedemann Prader-Willi - deletion of paternal 15q11-q13
52
Omphalocele is seen in...
Beckwith-Wiedemann, trisomies

Peds (25 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions