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Genetic Disorders and Inborn Errors of Metabolism Flashcards

1
Q

What is the most common cardiac abnormality in Downs syndrome?

A

Results from endocardial (atrioventricular) cushion defect, leading to a complete or partial atrioventricular septal defect. Other defects include, ventricular septal defect (31%), atrial septal defect (15%), and tetralogy of fallot (5%)

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2
Q

What is the inheritance pattern of marfan syndrome?

A

autosomal dominant

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3
Q

What are the complications of osteogenesis imperfecta?

A

1) early conductive hearing loss

2) skeletal deformaties

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4
Q

Syndrome in which there is a defect in the structures derived from the third and fourth pharyngeal pouches

A

DiGeorge Syndrome

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5
Q

Spondylodysplasias

A

abnormalities of the spine with or without limb abnormalities

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6
Q

Rhizomelia

A

proximal long bone abnormalities (femur, humerus)

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7
Q

Where is the gene defect for Marfan syndrome located ? What does it code for?

A

chromosome 15 that codes for fibrillin

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8
Q
  • small triangular face
  • short stature
  • cafe-au-alit spots
  • excessive sweating
A

Russell-Silver syndrome

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9
Q

A 7-year-old boy with short stature and obese body habitus is brought to his pediatrician for an annual check up. His mother states that he has been doing well in school since he began an individualized education plan. However, he continues to gain weight, and she confesses that she might have been overfeeding him because when he was younger, he was a poor feeder and a floppy baby. She has been trying to restrict his diet, unsuccessfully, as her son will guilt his grandmother into feeding him. Physical examination shows the patient has failed to reach developmental milestones for his age, and his hands and feet appear to be small in proportion to his body. In addition the patient shows evidence of cognitive delay.

A

Prader-Willi syndrome

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10
Q

What are the craiofacial findings in a patient with velocardiofacial syndrome?

A
  • cleft palate
  • wide prominent nose
  • short chin
  • fish-shaped mouth
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11
Q

What is the pathophysiology behind Ehlers-Danlos syndrome

A

Production of defective type V collagen

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12
Q

What are the characteristic features of angelman syndrome?

A
  • developmental delay
  • seizures
  • frequent laughter
  • ataxia (poor control over voluntary muscle movements)
  • large mandible (usually developed later in life)
  • hypotonia
  • tip-toe walking
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13
Q

What is “triple marker”

A

3 markers:

1) AFP
2) unconjugated estriol,
3) beta subunit of human chorionic gonadotropin (beta-HCG)

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14
Q

What is cystic fibrosis

A
  • autosomal recessive genetic disorder

- deletion of phenylalanine in CFTR protein

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15
Q

What are the results of the quadruple test in trisomy 18?

A

all levels of the quadruple test are decreased.

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16
Q

single eyebrow, short stature, no skeletal abnormalities

A

cornelia de Lange (drachmann-de Lange) syndrome

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17
Q

What is a low AFP level associated with?

A

1) overestimated gestational age
2) trisomies 21 and 18
3) intrauterine growth retardation

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18
Q

What causes osteogenesis imperfect?

A

mutations that cause production of abnormal type I collagen. There are 4 types.

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19
Q
  • hyperextensible joints
  • loose fragile skin
  • fragile vessels –> easy bruising
  • constipation, rectal prolapse, hernias
A

Ehlers-Danlos

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20
Q

What test is used to diagnose Down syndrome in the prenatal period?

A

CVS is used for the definitive prenatal diagnosis of Down syndrome in women who screen positive with a biochemical marker test

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21
Q

What is genomic imprinting?

A

When a gene defect is expressed solely based on the sex of the parent passing on the defective gene

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22
Q

harsh holosystolic murmur at the left lower sternal border

A

ventricular septal defect

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23
Q

What is homocystinuria caused by ?

A

cystathionine synthase deficiency

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24
Q

What is duodenal atresia?

A

failure of the duodenum to canalize

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25
What is marfan syndrome?
Connective tissue disorder that affects the ocular, cardiovascular and skeletal systems
26
brushfield spots
aggregations of connective tissue hyperplasia on the outer iris of the eye. Characteristic of trisomy 21
27
A 4-year-old boy comes to his pediatrician's office for a well child check. He has a history of a rare genetic disorder that involves intellectual and development delay. Physical examination reveals a boy with a protruding tongue, ataxia, and inappropriate laughter without provocation. He also has a history of seizures for which he takes anti-epileptic medications. What is the most likely diagnosis?
Angelman's syndrome
28
What are the features of DiGeorge and velocardiofacial syndrome ?
``` CATCH-22 C - cardiac A - abnormal facies T - thymic hypoplasia C - cleft palate H - hypocalcemia 22 - gene defect on chromosome 22 ```
29
What is the most common cause of male hypogonadism and infertility?
Klinefelter syndrome
30
When is chorionic villus sampling performed?
10-13 weeks
31
What causes achondroplasia?
mutation in the fibroblast growth factor receptor 3 gene
32
What is the most common inherited cause of mental retardation?
Fragile X syndrome
33
acromelia
distal abnormalities (small hands and feet)
34
- Deletion of chromosome 7 | - cocktail party personality
william's syndrome
35
What is an elevated AFP associated with?
1) neural tube defects 2) multiple gestation pregnancies 3) underestimated gestational age 4) ventral abdominal wall defects 5) fetal demise 6) fetal conditions that cause deem or skin defects
36
annular pancreas
Rare condition in which the second part of the duodenum is surrounded by a ring of pancreatic tissue continuous with the head of the pancreas. This portion of the pancreas can constrict the duodenum and block or impair the flow of food to the rest of the intestines.
37
eisenmenger's syndrome
Process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect (typically by a ventricular septal defect, atrial septal defect, or less commonly, a patent ductus arteriosus) causes pulmonary hypertension and eventual reversal of the shunt into a cyanotic right-to-left shunt. Clinically, patients have central cyanosis and dyspnea. Can occur in VSD or or ASD that was not surgically corrected.
38
What are the craniofacial findings in a patient with DiGeorge syndrome?
short palpebral fissures, small chin, ear anomalies
39
What kind of family history is suspicious for IEM?
1) neonatal deaths in siblings or affected males on material side 2) parental consanguinity 3) mental retardation 4) unusual dietary preferences in relatives
40
What is the inheritance patter for ehler's danlos syndrome?
autosomal dominant
41
What are the complications of marfan's syndrome
- endocarditis - retina detachment - sudden death from aortic dissection
42
VACTERL (VATER) association
``` V - vertebral defects A - anal atresia C - cardiac anomalies TE - tracheoesophageal fistula R -renal and genital defects L - limb defects ```
43
What are the cardiovascular findings found in a patient with Marfan's syndrome?
1) mitral valve prolapse 2) aortic root dilatation 3) aortic regurgitation
44
- blue sclerae - fragile bones, frequent fractures, gene claim - yellow or gray-blue teeth - easy bruisability
Osteogenesis imperfecta
45
mesomelia
medial long bone abnormalities (short ulna and tibia
46
What are the craniofacial features of a child with Prader-Willi syndrome?
almond-shaped eyes and down-turned fishlike mouth
47
What test is used to screen for down syndrome?
Quadruple test which is done during the second trimester (15-22 wks). 1) alpha fetoprotein --> decreased 2) estriol --> decreased 3) beta hCG --> increased 4) inhibin A- increased *2 up 2 down
48
What is pleiotropy?
genetic terminology used to define a single mutation which causes disease that affects multiple organ systems. An example would be cystic fibrosis.
49
What test is ordered to confirm the diagnosis of Prader-Willi syndrome?
fluorescent in situ hybridization (FSH) probes to detect the deletion on chromosome 15q11-13
50
What are some clinical features of duodenal atresia?
- antenatal polyhydramnios - postnatal distention of the stomach with bilious vomiting - double bubble sign
51
What do Ehlers-Danlos, Marfan syndrome, and autosomal dominant polycystic kidney disease have in common?
Connective tissue disorders
52
Second trimester aneuploidy screening
consists of a blood test looking for 3-4 substances: α-fetoprotein, β-human chorionic gonadotropin, unconjugated estriol, and inhibin A.
53
- marfanoid body habitus without arachnodactyly - downward lens subluxation - hypercoagulable state - cardiovascular abnormalities (aortic dilatation absent) - scoliosis - developmental delay
clinical features of homocystinuria
54
How is the diagnosis of homocystinuria made?
increased methionine in urine and plasma by +ve cyanide nitroprussside test
55
How is homocystinuria managed?
- methionine-restricted diet - aspirin - folic acid and vitamin B6 supplementation
56
An infant born at 25 weeks is having poor feeding and lethargic. The infant is found to have an elevated serum tyrosine and phenylalanine levels. What is the diagnosis and management?
Transient tyrosinemia of the newborn - decrease protein intake. Vitamin C may help eliminate tyrosine
57
What is cystinuria?
Autosomal recessive disorder leads to defect in renal reabsorption of cystine, lysine, arginine and ornithine that leads to renal stones
58
what are the clinic features of cystinuria?
- urinary tract infections - dysuria - abdominal or back pain - urgency - urinary frequency
59
What is the most common urea cycle defect?
ornithine transcarbamylase deficiency
60
What causes galactosemia?
autosomal recessive galactose-1-phosphate uridyltransferase deficiency.
61
What are the clinical features of galactosemia
Usually begins after newborn feeds a cow's milk-based formula or breastfeeds for the first time. - vomiting, diarrhea and FTT - hepatomegaly - cataracts with oil-droplet appearance - renal tubular acidosis
62
What is the treatment of galactosemia?
galactose-free diet - soy or elemental formulas
63
What occurs if galactosemia is not treated promptly?
mental retardation, ovarian failure in females, death early in infancy
64
Infant begins eating fruit and drinking fruit juice - severe hypoglycemia - vomiting - diarrhea - FTT - seizures What is the diagnosis?
hereditary fructose intolerance
65
What is hereditary fructose intolerance caused by?
fructose-1-phosphate aldolase B deficiency
66
What are glycogen storage diseases characterized by?
- organomegaly | - metabolic acidosis
67
Pompe ’s disease (GSD Type 2)
caused by alpha -glucosidase deficiency, should be suspected in any infant with muscular weakness and cardiomegaly. It presents within the first 2 weeks of life with flaccid weakness, poor feeding, progressive cardiomegaly, hepatomegaly, and acidosis
68
Von Gierke’s disease (GSD type 1)
is an autosomal recessive disorder caused by glucose -6-phosphatase deficiency. Presenting features may include persistent hypoglycemia, hepatomegaly, metabolic acidosis, hyper triglyceridemia, and enlarged kidneys.
69
Kayser-Fleischer rings
copper deposition seen in the peripheral cornea
70
How do you diagnose Wilson's disease?
serum ceruloplasmin will be decreased
71
Child's urine has a sweet maple syrup odor to it
Maple syrup urine disease
72
Developmental delay, hyperactivity, mousy and musty door
PKU
73
peripheral neuropathy, renal and liver disease, door of rotten fish or cabbage
tyrosinemia type I
74
What causes Tay-Sachs disease?
hexoaminidase A deficiency
75
hyperactive startle and loses eye contact. Cherry-red macula, enlarging head circumference, neurodegeneration with severe developmental delay, progressive blindness and seizures. Death usually occurs by 4 years of age
Tay-Sachs disease
76
Erlenmeyer flash-shaped distal femur
Gaucher's disease
77
what are potential complications of achondroplasia
- cord compression caused by foramen magnum stenosis - OSA - genu varum and back pain due to lumbar lordosis
78
aortic dissection is a complication of _______
marfan syndrome
79
downward lens subluxation
homocystinuria vs marfan syndrome (upward lens subluxation)
80
What is common between marfan syndrome and homocystinuria?
both have decreased upper to lower segment ratio
81
partial deletion on the short arm of chromosome 5, slow growth, microcephaly, mental retardation, hypertelorism, classic catlike cry
cri du chat syndrome
82
hyperextensible joints, fragile blood vessels, easily bruised skin, tissue paper-thin scars, cardiovascular complications
ehlers-danlos syndrome
83
corneal clouding, dysostosis multiplex, organomegaly, progressively coarsened faces, frontal bossing, widened nasal bridge, thickening of nasopharyngeal tissues
Hurler Syndrome
84
The vascular form of Ehlers-Danlos syndrome results from a defect in ___________
Type III collagen also known as reticulin found in granulation tissue, artery walls, skin, intestines, and uterus
85
A 22-year-old man comes to his primary care provider's office because of shoulder pain. He states that he always dislocates his shoulder during his company's annual softball game. He also reports easy bruising and stretchy skin. On physical examination, the patient's skin is hyperextensible and smooth velvety with cigarrette-paper like scars. His thumb is passively dorsiflexed to greater than 90 degrees. What is the diagnosis?
Ehlers-Danlos syndrome
86
A 30-year-old woman who plays tennis presents in clinic for evaluation of her recurrent shoulder subluxation. She reports that she has always been flexible and can hyperextend her elbows and knees. She has self-managed her shoulder issues until now, but she worries that they might shorten her career. In addition, she has noticed that her skin bruises and splits easily, taking a long time to heal. Friends comment that her skin is unusually stretchy, but she thinks that her skin type simply runs in the family. Which cardiovascular finding is most likely to be present upon physical examination?
crescendo late systolic murmur with a mid systolic click - mitral valve prolapse

Pediatrics (12 decks)

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