Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Peds > Genetics > Flashcards

Genetics Flashcards

1
Q

Holoprosencephalopathy, agensis of corpus callosum, polycystic kidneys, cardiac defects, limb abnormalities and aplasia cutis congenita

A

Trisomy 13

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

IUGR, low birth weight, clenched fists, rocker bottom feet, abnormal head shape

A

Trisomy 18

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

Long narrow face, prominent jaw, protuberant ears, ADHD/autism, macro-orchidism, recurrent AOM

A

Fragile X Syndrome

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

wide-set eyes, upturned nose, large maxilla, prominent philtrum, pointed chin

A

Williams Syndrome

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

wide spaced eyes, low set ears, shied like chest, pectus deformity and increased carrying angle of arms

A

Noonan Syndrome

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

What should you suspect in a patient with NF1 and precocious puberty?

A

Optic pathway glioma

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

Short stature, frontal bossing, triangular faces, shortend and incurved 5th fingers (clinodactyly), asymmetry and cafe au lait spots

A

Russel-Silver syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Cholestasis, cardiac anomalies, butterfly vertebrae, broad nasal bridge, triangular facies and deep set eyes

A

Alagille syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Unilateral or bilateral upper extremity defects with septal defects

A

Holt-Oram syndrome (heart-hand)

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

Fused cervical vertebrae - short neck, low hairline. Hearing difficulties, eye abnormalities, cleft palate, cardiac or GU anomalies

A

Klippel-Feil syndrome

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

Arched eyebrows, long eyelashes, long opening of eyelids, flat broadened tip of nose, long protruding earlobes. Prominent fetal finger pads

A

Kabuki syndrome

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

Microcephaly, intellectual disability and multiple internal organ malformations. Syndactyly of second and third toes, hypotonia and feeding difficulties

A

Smith-Lemli-Opitz

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

Wilms tumor, aniridia, GU anomalies, intellecutal delay

A

WAGR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hypopigmented lesions (ash-leaf macules), seziures, developmental delay, adenoma sebaceum, periungal fibromas, and shagreen patches

A

Tuberous sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Tall stature, pectus excavatum, lens dislocation WITH developmental delay

A

Untreated homocysteinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Cleft lip/palate, external ear abnormalities leading to conductive hearing loss, malar hypoplasia, colobomata, lack of eyelashes

A

Treacher-Collins

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

Loss of gene activity on maternally acquired chromosome 15

A

angelMan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Loss of genea ctivity on paternally acquired chromsome 15

A

Prader wili

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

Likely in utero environment of an infant with poor tone, poor suck and weakness

A

Polhydraminos - unable to swallow the amniotic fluid in utero

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

Generalized hirsuitism, long curly eyelashes, depressed nasal bridge, thin philtrum with downward turned upper lip, micrognathia, limb contractures, digit anomalies, hypoplastic genitlas

A

Cornelia-de-lange

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Cardiac rhabdomyomas are most likely to be symptomatic in first 6 years of life when they could obstruct blood flow before they spontaneously regress (typically by 6 years old). They are associated with what syndrome?

A

Tuberous sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Irritability, fever, anorexia, soft tissue swelling associated with subperiosteal cortical thickening of underlying bone. Leukocytosis, ESR and elevated alk phos present. Present prior to 6 months of age

A

Caffey disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Micrognathia, glossoptosis, upper airway obstruction

A

Pierre-Robin Sequence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Things associated with Pierre-Robin sequence

A

Strickler syndrome, 22q11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Severe respiratory distress from pulmonary hypoplasia, narrow dysplastic thorax and extremity short ribs. May have natal teeth

A

Ellis-van Creveld syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Small, hypoplastic mandible, micropthalmia, cataracts and neonatal teeth

A

Hallerman-Streiff syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye abnormalities and sternal clefting/supraumbilical abdominal raphe

A

PHACES

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Telangictasisas, photosensitivity, severe chelitis, growth deficiency, increased susceptibility to neoplasms, long face, long limbs

A

Bloom syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Recurrent infections of mucous membranes, respiratory tract, and skin, oculocutaneous albinism, ataxia. Large granules in neutrophils.

A

Cheidiak-Higashi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Elevated leucine, isoleucine and valine in plasma and urine

A

Maple Syrup Urine disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Treatment for homocysteinuria

A

pyridoxine, folic acid and vitamin B12

32
Q

Lipid storage disease with splenomegaly, hepatomegaly, skeletal abnormalities, anemia and thrombocytopenia

A

Gaucher disease

33
Q

Exaggerated startle at birth with loss of motor skills, axial hypotonia, extremity hypertonia and hyperreflexia

34
Q

vomiting, diarrhea, failure to thrive, hepatosplenomegaly, hypotonia, loss of motor skills (around 6 months)

A

Niemann-Pick

35
Q

Erlenmyer flask on x-ray

36
Q

Developmental delays, intellectural disability, dystonic movemetns, hypotonia, hyperreflexia and self-mutilation

A

Lesch-Nyhan syndrome

37
Q

Absence of hypoxanthine guanine phosphoribosyltransferase leading to excessive levels of uric acid in blood and urine

A

Lesch-Nyhan syndrome

38
Q

Hypoglycmeia, lactic acidosis and hyperlipidemia

A

glycogen storage disease type 1

39
Q

Liver dysfunction, jaundice, hepatomegaly, cataracts, urinary ketones and reducing substance often presents early in life

A

Galactosemia

40
Q

Light pigmented skin, eczema, blonde hair, blue eyes, if untreated will be significantly developmentally delayed

A

Phenylketonuria

41
Q

Cystathione Beta synthase deficiency

A

homocystinuria

42
Q

branched chain ketoacid dehydrogenase complex deficiency

A

maple syrup urine disaease

43
Q

Treatment for glycogen storage disease type 1

A

noctunal NG infusion of glucose until 2-3 years of age with frequent daytime feeding. Raw constrach in water when older

44
Q

short stature, multiple skeletal deformities, joint stiffness, thickened skin, hypertelorism, and coarce facial features

A

Hunter syndrome

45
Q

Deficiency of lysosomal enzymes responsible for degradation of mucopolysaccharides or GAGs

A

mucopolysaccharidosis

46
Q

Deficiency of 7 dehydrocholesterol reductase

A

Smith-Lemli-Opitz syndrome

47
Q

Microcephaly with narrow bifrontal diameter, broad nasal tip with anteverted nares, hypertelorism and ptosis, cleft palate and micrognathia and low set ears

A

Smith-Lemli-Opitz syndrome

48
Q

Elevated very long chain fatty acids

A

Zellweger syndrome

49
Q

heaptic and renal dysfucntion with large anterior fontanelle, high forehaed, cataracts, broad nasal bridge and epiphyseal stippling

A

Zellweger syndrome

50
Q

Full cheeks with sagging jowls and lips. little hair pigment. Collagen abnormalities. Impaired copper uptake

A

Menkes disease

51
Q

Infant who was normal at birth who develops marked hypotonia, hepatomegaly and cardiomegaly early in life

A

Pompe disease (glycogen storage disease type 2)

52
Q

Deficient activity of alpha glucosidase

A

Pompe disease

53
Q

Deficit in glucose-6-phosphatase

A

Von Gierke (type 1 glycogen storage disease)

54
Q

presents with severe hypoglycemia around 3-4 months

A

Von Gierke

55
Q

Normal at birth and then within first 2 years develop coarsened facial features, large tongue, macrocephaly, corneal clouding and thickened heart valves

A

Hurler syndrome

56
Q

Macrocephaly at birth, normal development until first febrile illness –> hypotonia and dystonia

A

Glutaric acidemia

57
Q

Head imaging demonstrates frontal and cortical atrophy with increased extraaxial space. Will develop degeneration of caudate nucleus and putamen

A

Glutaric acidemia

58
Q

Hypoketotic hypoglycemia when a kid placed under metabolic stress during first 3 years of life

A

Medium chain acyl CoA dehydrogenase

59
Q

Diagnostic test for fatty acid oxidation disorder

A

Plasma acylcarnitines

60
Q

Failure to thrive, hepatic dysfunction, renal dysfunction without hypoglycemia, x-ray findings of rickets

A

Tyrosinemia type 1

61
Q

Succinylacetone in urine

A

Tyrosinemia type 1

62
Q

Academic difficulty, impulsivity, gait abnormalities, slurred speech, hyperpigmentation on physical exam

A

adrenoleukodystrophy

63
Q

By 5 days of age - poor feeding, lethargy, respiratory alkalosis, hyperammonemia and hypotonia

A

Urea cycle disorder

64
Q

Differentiation between ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase deficiency?

A

check urine orotic acid. Will be low or normal in CPS and high in OTC

65
Q

Rapid growth in early childhood without an endocrine explanation. Continues until 4-5 years of age and then return to normal growth pattern and reach typical adult heights. Have large hands, feet, foreheads and intellectual disability

A

Sotos syndrome

66
Q

Bilateral premature closure of coronal sutures with midface hypoplasia, proptosis, and normal intelligence, normal hands and feet

A

Crouzon syndrome

67
Q

Premature closure of multiple sutures with syndactyly, “mitten hand” and intellectual disability

A

Apert syndrome

68
Q

Fusion of mulitple sutures (commonly lamboid and sagittal), syndactyly, intellectual disability, CHD, corneal opacities

A

Carpenter syndrome

69
Q

Rake an object without grasping it

70
Q

Scissor grasp - grab object between thumb and side of curved index finger

71
Q

Early pincer grasp with distal thumb joint slightly flexed

72
Q

Fine pincer grasp with index finger and thumb joints flexed

73
Q

Cardiac differences between noonan and turners

A

Noonans - ASD and pulmonic stenosis

Turners - aortic

74
Q

hearing loss, iris heterochromasia, white forelock, premature graying, cutaneous depigmentation

A

Waardenburg syndrome

75
Q

Crowe sign

A

axillary freckling

76
Q

Absent/underdeveloped uterus and vagina, but normal developing external genitalia and ovaries. So still have pubic hair and breast development, but often diagnosed when no mensturation

A

Mullerian Aplasia/MRKH Syndrome

Peds (17 decks)

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