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Peds Boards 2021 > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the most likely diagnosis of patient with academic deficiencies, autistic features, elongated face, broad forehead, prominent jaw and ears, strabismus, and macroorchidism?

A

Fragile X

due to repeat trinucleotide expansion on X chromosome

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2
Q

What is the most likely diagnosis for patient presenting with developmental delays, growth delay, FTT, prominent hirsutism (thin brushed on eyebrows, long curly eyelashes, low set hairline), upper lip that looks like cupids bow and oligodactyly (associated with contractures)?

A

Cornelia de Lange Syndrome

distinctive facial and limb abnormalities

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3
Q

What is the most likely diagnosis of patient with focal sharply demarcated uclerated plaques on scalp with absence of skin, but covered by tense membrane along with absence corpus callosum, polycystic kidneys, cleft lip/palate, enlarged ventricles, VSD, polydactylyl?

A

Trisomy 13 (Patau syndrome)

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4
Q

What disorder is associated with aplasia cutis congenita (focal absence of skin in several areas of scalp with tense membrane covering)?

A

Trisomy 13 (Patau syndrome)

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5
Q

What pulmonary finding is associated with Marfan Syndrome?

A

spontaneous pneumothorax

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6
Q

What is the inheritance pattern of Neurofibromatosis 1 type 1?

A

Autosomal dominant

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7
Q

What is the most likely diagnosis of patient with hypopigmented macules on back (ash leaf spots), facial angiofibromas, shagreen patch (elevated thicken firm yellow-orange connective tissue hamartoma), developmental delay and seizures?

A

Tuberous sclerosis

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8
Q

What is the inheritance pattern of tuberous sclerosis?

A

autosomal dominant

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9
Q

What is the most likely diagnosis of patient presenting with depressed like mood, parkinsonian like tremor, elevated liver enzymes and Kayser Fleischer rings (yellow discoloration of cornea near limbus) on slit lamp?

A

Wilson Disease

due to copper accumulation

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10
Q

What is the most likely diagnosis for patient with Pierre Robin sequence (micrognathia, glossoptosis, airway obstruction) and cleft palate along with ophthalmologic, auditory and articular abnormalities?

A

Stickler syndrome

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11
Q

… is described as mass located in the interventricular septum of the heart and associated with tuberous sclerosis

A

Cardiac rhamdomyoma

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12
Q

What is the most likely diagnosis for patient presenting with short palpebral fissures, shortened philtrum, micrognathia, low set notched ears, right sided aortic arch and VSD, and absence of thymus?

A 
DiGeorge Syndrome
(due to microdeletion in 22q11.2)
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13
Q

What is a major complication of DiGeorge Syndrome?

A

hypocalcemic seizures

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14
Q

What is the genetic abnormality related to DiGeorge syndrome?

A

microdeletion of 22q11.2

dx via microarray

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15
Q

What is the cardiac manifestations associated with Marfan syndrome?

A

aortic root anomalies

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16
Q

What is the most likely diagnosis for patient presenting with hypoplasia of facial bones (malar, zygomatic processes, lateral pterygoid plates mandibular condyles), hypoplastic paranasal sinuses, no pneumatized mastoid bones, micrognathia, lack of eyelashes from lower lid, and colobomata, choanal atresia and conductive hearing loss?

A

Treacher Collins syndrome (mandibulofacial dysotosis)

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17
Q

What is the most likely diagnosis for neonate with SGA, cystic hygroma, nuchal thickening, shortened femur, horseshoe kidney, ascites and generalized edema?

A

Turner’s syndrome

45, X

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18
Q

What is the most likely diagnosis of patient with extreme irritability, fever, anorexia, soft tissue swelling associated with subperiosteal cortical thickening on Xray, leukocytosis, elevated ESR, and elevated alk phos?

A

Caffey disease (infantile cortical hyperostosis)

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19
Q

What is the most likely diagnosis for patient with mitten hand deformity (syndactyly of 2nd, 3rd, and 4th digits), bicoronal synostosis (craniosynostosis), hypertelorism, strabismus and maxillary hypoplasia?

A

Apert syndrome

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20
Q

What is the double bubble (dilation of stomach and proximal duodenum with rest of intestine gasless) sign of abdominal Xray suggestive of and what disorder is it associated with?

A

Duodenal atresia; Down Syndrome

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21
Q

What is the gene defect associated with hereditary pancreatitis?

A 
PRSS1 gene
(results in activation of trypsin while in pancreas)
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22
Q

What is the most common cardiac abnormality associated with Turner syndrome (45,X)?

A

bicuspid aortic valves

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23
Q

A patient presenting with distal muscle weakness (tripping often, unable to release grip on objects), facial muscle atrophy, cardiac abnormality but normal proximal muscle strength most likely suffers from….

A 
Myotonic Dystrophy
(autosomal dominant)
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24
Q

What is the most likely diagnosis for patient presenting with poor wound healing, doughy smooth texture skin, joint hypermobility and hyperelasticity of skin with easy bruising?

A

Ehlers Danlos syndrom

25
Q

What cardiac abnormality is associated with Ehlers Danlos?

A

mitral valve prolapse

midsystolic click followed by later systolic murmur at cardiac apex

26
Q

what blood disorder is associated with Down Syndrome (trisomy 21)?

A

transient myeloproliferative disorder

elevated blasts in bone marrow but not peripheral blood

27
Q

What is the second most common cardiac abnormality in patients with Turner syndrome?

A

coarctation of aorta

28
Q

What bony abnormality is associated with Neurofibromatosis (NF) type 1?

A

Sphenoid dysplasia

29
Q

What is the difference between Turner Syndrome and Noonan Syndrome?

A

different pattern of congenital heart disease
Turner- bicuspid aortic valve and coarctation of aorta
Noonan- pulmonary stenosis (w/ dysplastic pulmonary valve)

30
Q

What complication associated with Down Syndrome is a contraindication for sports?

A

Atlantoaxial instability (excessive mobility of articulation of the Atlas (C1) and the axis (C2) of spine)

31
Q

What medication can increase your risk of developing autoimmune hepatitis?

A

Minocycline

32
Q

What is the most likely diagnosis of patient presenting with malaise, arthralgia, fatigue, anorexia, elevated transaminases, normal alk phos, elevated direct bili, and hypergammaglobulinemia in the setting of minocycline use?

A

Autoimmune Hepatitis

33
Q

What is the most likely diagnosis with patient presenting with overly friendly behavior, ADHD, learning disability, outgoing personality, hypersensitive to sounds, elfin facies and systolic murmur heard best at right upper sternal border radiating to the back (supravalvular aortic stenosis)?

A 
Williams syndrome
(microdeletion of chromosome 7: 7q11.23)
34
Q

What is the most likely diagnosis associated with port wine stain along cranial 5 nerve on face, leptomeningeal angiomatosis (leading to seizures) and glaucoma?

A

Sturge Weber Syndrome

35
Q

What is likely diagnosis for patient with Turner syndrome or Down syndrome who has diffuse enlarged nodular thyroid gland?

A

Chronic lymphocytic thyroiditis

autoimmune thyroid

36
Q

What is the diagnostic finding associated with Wilson Disease?

A

elevated urine copper (not increased in blood)

37
Q

What are the major differences between Marfan syndrome and Homocystinuria?

A

Marfan: autosomal dominant, upward displacement of lens
Homocystinuria: autosomal recessive, downward displacement of lens, intellectual disability

38
Q

What is the most common extremity malformation associated with Trisomy 18?

A

5th and index finger overlap the 2nd and 3rd finger and hypoplastic nails

39
Q

What is the most likely diagnosis for patient presenting with absent/ hypoplastic radii with present thumbs, thrombocytopenia, likely congenital heart defect and risk of intracranial hemorrhage?

A

TAR (thrombocytopenia with absent radii) sydrome

40
Q

What is the most likely diagnosis of patient presenting with tall stature, disproportionate limbs with normal arm span, ADHD/ ODD, immature/ poor social skills, gynecomastia, scant pubic/ axillary hair, and Barr body (condensed chromatin in female cells due to X inactivation)?

A

Klinefelter Syndrome

47 XXY

41
Q

What is the initial diagnostic test of choice for Hemochromatosis?

A 
iron studies (to assess for iron overload)
(90% due to HFE gene mutation but not all)
42
Q

What is the likely diagnosis for patient presenting with bronzed skin, fatigue, hepatosplenomegaly, eventually develops diabetes, and arthralgias?

A

Hemochromatosis

due to HFE gene mutation most of time

43
Q

What diagnostic findings are suggestive of gonadal dysgenesis in Turner Syndrome?

A

elevated LH and FSH

44
Q

What is Ghent criteria and what diagnosis is it used for?

A
  1. family history of Marfan
  2. ectopic lens
  3. aortic disease

Marfan syndrome

45
Q

What is the most likely diagnosis for patient presenting with congenital hearing loss, heterochromia, white forelock, displacement of medial canthi, unibrow, and irregular borders and scattered patchy hyper-pigemented macules?

A

Waardenburg

due to PAX3 geen on 2q35

46
Q

What is the inheritance pattern for Duchenne Muscular Dystrophy?

A

X-linked recessive

47
Q

What are the common EKG changes associated with hypocalcemia? (2)

A
  1. prolonged QTc

2. prolonged ST interval

48
Q

What is the most likely diagnosis for patient presenting with easy excitability, tendency to laugh and smile while hand flapping, developmental delay, speech delay, flattened occiput, protruding tongue, ataxia and seizure disorder?

A

Angelman syndrome

Happy Puppet Syndrome due to mutation of maternal chromosome 15

49
Q

What is the most common anatomical configuration for tracheoesophageal fistula?

A

esophageal atresia with distal tracheoesophageal fistula

50
Q

What is the most likely diagnosis for patient with almond shaped eyes, small mouth, thin upper lips, undescended testis with small penis if male, hypotonia at birth with associated FTT that resolves at 1 year old, and then develop compulsive eating?

A

Morbid Obesity

51
Q

What is the most likely diagnosis of patient with acoustic neuromas (benign schwannomas of vestibular portion of cranial 8 nerve) and cataracts?

A

Neurofibromatosis Type 2 (NF-2)

52
Q

What is the most likely diagnosis for patient presenting with exocrine pancreatic insufficiency (malabsorption and failure to thrive) with negative CF testing, cyclic neutropenia with anemia/ thrombocytopenia, bifid thumbs, skeletal abnormality and recurrent bacterial and fungal infections?

A

Shwachman-Diamond Syndrome

autosomal recessive

53
Q

What is the most likely diagnosis for patient with Wilms tumor, aniridia, GU abnormalities (cryptorchidism), and developmental delay?

A 
WAGR syndrome
(deletion of chromosome 11p13
54
Q

… sign is small, grouped, freckle like, hyperpigmented macules 1-4 mm and clustered in the axilla or groin associated with NF-1

A

Crowe

55
Q

what is the most likely diagnosis for patient presenting with macrocephaly, frontal bossing, midfacial hypoplasia, and disproportionately short stature with proximal limb shortening?

A

Achondroplasia

56
Q

What pulmonary finding is associated with Marfan syndrome?

A

Spontaneous pneumothorax

57
Q

What is the most likely diagnosis for patient presenting with hypocalcemia, poor weight gain, cleft palate, hypernasal speech, hearing loss, cryptorchidism, congenital heart defect, hyperextensible hands and tapering fingers, micrognathia, and long narrow face with prominent nose?

A 
Velocardiofacial syndrome
(due to microdeletion of q11.2)
58
Q

What is the most likely diagnosis for patient presenting with short palpebral fissures, long smooth philtrum, thin vermillion border, shortened nose with midface hypoplasia, microcephaly and developmental delay?

A

Fetal Alcohol Syndrome

59
Q

What is the gene associated with Fragile X syndrome?

A

FMR1 gene

Peds Boards 2021 (22 decks)

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