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Clin Med IV: Pediatrics > Pediatric Congenital and Hereditary Disease > Flashcards

Pediatric Congenital and Hereditary Disease Flashcards

1
Q

What is PKU

A

autosomal recessive
deficiency of phenylalanine hydroxylase

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2
Q

What is the management of PKU

A

avoid intake of phenylalanine (low protein diet)

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3
Q

what can congenital hypothyroidism cause

A

intellectual disability and poor growth

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4
Q

What is CAH

A

Congenital Adrenal Hyperplasia
defect in 21-hydroxylase leads to diminished cortisol synthesis, increased release of ACTH accululation of 17-hydroxyprogesterone

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5
Q

what are the forms of CAH

A

classic form: more severe, usu detected during infancy or screening
Non-classic (late onset): milder, presents in later childhood through early adulthood

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6
Q

What is the presentation of Classic form CAH

A

girls: ambiguous genitalia, can have salt wasting
Boys: salt-losing (adrenal crisis), non-self: early virilization

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7
Q

What is the presentation of non-classic form cAH

A

precocious puberty
short stature as adults - premature closure of growth plates
girls: hirsutism, menstrual issues, irregularities

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8
Q
A
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9
Q

what are signs of adrenal crisis with CAH

A

shock/severe hypotension
failure to thrive
vomiting, diarrhea, abdominal pain
low Na
High K
metabolic acidosis
low glucose

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10
Q

what is the management of CAH

A

pediatric endocrinology

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11
Q

what type of hearing loss is seen most often in neonates

A

sesorineural

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12
Q

What is Trisomy 21

A

Downs syndrome
chromosomal abnormality in live born children

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13
Q

What is Klinefelter’s syndrome

A

47 XXY (non-disjunction)
tend to be tall, long arms and legs, narrow shoulders

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14
Q

what is the presentation of Klinefelters syndrome

A

tall
narrow shoulders
infertility
small testes
gynecomastia
osteopososis in middle age

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15
Q

What is Turner’s syndrome

A

monosomy X: 45X
partial deletion of X chromosomes
only monosomy that allows survival to birth

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16
Q

What are common physical features with FragileX syndrome

A

prominent, broad forehead
large ears, long face
stabismus
prominent jaw, dental, crowding high arched palate
murmur/mitral valve prolapse
hollow chest
hypotonia/joint laxity
Scoliosis
macro-orchidism

17
Q

what are symptoms of fragile x syndrome

A

autism spectrum disorders
intellectual disability
distinct facial features

18
Q

what is one of the most common causes of inherited cognitive impairment/developmental delay

A

Fragile X

19
Q

What is Prader-Willi Syndrome

A

due to deletion or inactivity of part of paternal chromosome 15

20
Q

What is the presentation of neonatal Prader-Willi Syndrome

A

hypotonia (poor suck, failure to thrive)
almond-shaped eyes
small hands and feet

21
Q

What is the presentation of Prader-Willi Syndrome in Childhood/adolescence

A

obesity (hyperphagia)
hypogonadism
developmental delay, cognitive impairmement

22
Q

What is Angelman syndrome

A

maternal chromosome 15 - just like Prader-Willi but from mom

23
Q

What is Marfan’s Syndrome

A

inherited connective tissue disorder
autosomal dominant

24
Q

What major systems are involved with Marfans

A

Cardiac - AA
MSK - long, thin extremities, loose joints
eyes - dislocation of lens
spontaneous pneumothorax is common

25
Q

What is Ehlers-Danlos Syndrome

A

collagen disorder
hyper-elasticity of skin and hypermobile joints

26
Q

What is spina bifida

A

cleft in the spinal column due to neural tube defects

27
Q

What is Anencephaly

A

congenital absence of a major portion of brain and skull

28
Q

what is encephalocele

A

sac-like protrusion of brain and membrane thru skull opening

29
Q

What are fetal alcohol spectrum disorders

A

fetal alcohol syndrome: most recognized
no exact dose-relationship

30
Q

what are risk factors for fetal alcohol syndrome

A

older maternal age
binge drinking

31
Q

What are the facial features of fetal alcohol syndrome

A

short palpebral fissures
thin vermillion border
smooth philtrum

32
Q

What are the growth issues with fetal alcohol syndrome

A

poor prenatal and post natal growth

33
Q

What are neurologic features with fetal alcohol syndrome

A

intellectrual disability
learning disabilities
developmental delay
behaviroal difficulty, hyperactivity

34
Q

What environmental factors lead to cleft lip and palate

A

meds: seizure meds, MTX
smoking
alcohol
folate deficiency

35
Q

What is DiGeorge Syndrome

A

22q11.2 deletion syndrome
associated with cleft palate

36
Q

What are other clinical findings associated with DiGeorge syndrome

A

congenital heart disease
thymic hypoplasia: immune deficiency
hypocalcemia: from parathyroid hypoplasia

Clin Med IV: Pediatrics (16 decks)

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