Genetics & Growth/Devo Flashcards by Lindsay Hammons

A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue,
white spots on his iris

Down syndrome

How well did you know this?

Not at all

Perfectly

Down syndrome–expected IQ?

moderate MR. Speech, gross and fine motor skill delay

How well did you know this?

Not at all

Perfectly

Down syndrome–common heart complications

VSD, endocardial cushion defects

How well did you know this?

Not at all

Perfectly

Down syndrome–common GI complications

Hirschsprung’s, intestinal atresia, imperforate anus, annular pancreas

How well did you know this?

Not at all

Perfectly

Down syndrome–common endocrine complications

hypothyroidism

How well did you know this?

Not at all

Perfectly

Down syndrome–common MSK complications

atlanto-axial instability

How well did you know this?

Not at all

Perfectly

Down syndrome–common neurological complications

inc risk Alzheimer by 30-35 [APP is on Chr21]

How well did you know this?

Not at all

Perfectly

Down syndrome–common cancer complications

10x inc risk ALL

How well did you know this?

Not at all

Perfectly

Omphalocele, rocker-bottom feet/ hammer toe, microcephaly and clenched hand, multiple others

Edward’s syndrome (trisomy 18)

How well did you know this?

Not at all

Perfectly

Holoprosencephaly, severe mental retardation and microcephaly, cleft lip/palate, multiple others

Patau’s syndrome (trisomy 13)

How well did you know this?

Not at all

Perfectly

14 year old girl with no breast development, short stature and high FSH

Turner’s syndrome [XO]

How well did you know this?

Not at all

Perfectly

MC genotype of aborted fetuses

XO (Turner’s syndrome)

How well did you know this?

Not at all

Perfectly

Turner’s syndrome–assoc anomalies

Horseshoe kidney, coarctation of aorta, bicuspid aortic valve

How well did you know this?

Not at all

Perfectly

Turner’s syndrome–tx

Estrogen replacement for secondary sex char, and avoid osteoporosis

How well did you know this?

Not at all

Perfectly

18 year old tall, lanky boy with mild MR has gynecomastia and hypogonadism

Klinefelter’s syndrome

How well did you know this?

Not at all

Perfectly

Klinefelter’s syndrome–assoc cancer risk

inc risk gonadal malignancy

How well did you know this?

Not at all

Perfectly

Café-au-lait spots, seizures large head

Neurofibromatosis (autosomal dominant)

How well did you know this?

Not at all

Perfectly

Mandibular hypoplasia, glossoptosis, cleft soft palate. W/ FAS or Edwards

Pierre Robin Sequence

How well did you know this?

Not at all

Perfectly

Broad, square face, short stature, self-injurious behavior

Smith Magenis [del Chr17]

How well did you know this?

Not at all

Perfectly

Hypotonia, hypogonadism, hyperphagia, skin picking, agression

Prader-Willi [del paternal Chr15]

How well did you know this?

Not at all

Perfectly

Seizures, strabismus, sociable w/ episodic laughter

Angelman [del maternal Chr15]

How well did you know this?

Not at all

Perfectly

Elfin-appearance, friendly, increased empathy and verbal reasoning ability

Williams [del chr7]

How well did you know this?

Not at all

Perfectly

IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive

Cornelia de Lange

How well did you know this?

Not at all

Perfectly

Microcephaly, smooth philtrum, thin upper lip, ADHD-like behavior

Fetal alcohol syndrome

How well did you know this?

Not at all

Perfectly

Most common cause of mental retardation

FAS

Most common type of MR in boys, Macrocephaly, macro- orchidism, large ears

Fragile X syndrome [CGG repeats on the X-chr w/ anticipation]

Autosomal dominant, or assoc w/ advanced paternal age. Short palpebral fissures, white forelock and deafness

Waardenburg syndrome

2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam

Bruton agammaglobulinemia, X-linked, infx start at 6-9mo

Bruton agammaglobulinemia--dx

Absence of B cells on flow cytometry, low levels of all Igs

17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells

Combined variable immune deficiency (acquired)

Combined variable immune deficiency--complications

Increased lymphoid tissue causes increased risk for lymphoma

Most common B-cell defect. Recurrent URIs, diarrhea

Selective IgA deficiency

Selective IgA deficiency--complications

Anaphylaxis reaction if given blood containing IgA

3wk old M with seizure, truncus arteriosus, micrognathia

DiGeorge Syndrome [del chr22]

DiGeorge Syndrome--types of childhood infxns

Candida, viruses, PCP pneumonia

Infant w/ severe infxns, no thymus or tonsils; severe lymphopenia

SCID [MC is XLR; AR is ADA deficiency]

SCID--types of infections

bacterial, viral and opportunistic infxns

SCID--tx

PED EMERGENCY! need BMT by age 1

3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses

Chronic granulomatous disease [X linked]; PMNs can ingest but not kill catalase+ bugs

Chronic granulomatous disease--dx

Nitrotetrazolium blue (yellow means they have the dz). New test is Flow cytometry w/ DHR-123

18mo M baby w/ severe ezcema, petechiae, and recurrent ear infxns

Wisckott-Aldrich Syndrome (can have prolonged bleeding s/p circumcision)

Wisckott-Aldrich Syndrome--Ig make-up

Low IgM, high IgA/IgE, slightly low IgG

Newborns lose ___% of birth weight in 1st week. Why?

10%; diuresis of extravascular fluid

Newborns should regain birth weight by _____

2 weeks

Newborns should double in weight by

6 months

Newborns should triple in weight by

1 year

Newborns have increased 50% of length by ____

1 year

Newborns double in length by

5 years

Breast milk is best for babies--T/F

TRUE!!

Contraindications to breast-feeding (8)

Galactosemia, PKU, HIV, HSV on the breast, chemo, Li, Iodide, alcohol

Breast milk is ___ dominant, has more ___ and ___, but less ____ than formula. It is also better absorbed

whey; lactose; LCFA; iron

Diagnose--14 y/o boy, always been below 5% in height. Parents are tall & were “late bloomers”

constitutional growth delay

In constitutional growth delay, bone age is ___ real age; child is likely to have ___ final adult height

less than; normal

Diagnose--14 y/o boy, always been below 5% in height. Parents are 5’2” and 4’10”

Familial short stature

In familial short stature, bone age is _____ real age

equal to

Diagnose--14 y/o boy, 50% in height, 97% for weight

obesity

In obese children, bone age is ____ real age

greater than

What causes bone age > real age

obesity, precocious puberty, CAH, hyperthyroidism

Diagnose--14 y/o boy, starts out in 50% for height, in the past 2 years is now between the 5%-10%

pathologic short stature

What is in your ddx for pathologic short stature?

craniopharyngioma (vision problems, chect CT), Hypothyroidism (check TFTs), Hypopituitarism (check IgF1), Turners (check karyotype)

Reflexes--When head is extended, arms and legs both flex; time period

Moro; birth to 4-6mo

Reflexes--When you place your finger in palm, flexes hand

Grasp; birth to 4-6mo

Reflexes--Rub cheek, head turns to that side

Rooting; birth to 4-6mo

Reflexes--When stimulate dorsum of foot, steps up

Placing; birth to 4-6mo

Reflexes--When neck is turned to one side, opposite arm flexes and ipsilateral arm extends

Tonic neck; birth to 4-6mo

Reflexes--When a fall is simulated, arms are extended

Parachute; 6-8 month for rest of life

What is the CNS origins of primitive reflexes? (2)

brainstem and vestibular nuclei

Devo Milestones--What can baby do at 6 months?

roll over, sits w/ support, creep/crawl, stranger anxiety

Devo Milestones--What can baby do at 5yo?

skips, copies a triangle, draws person w/ 8-10 parts

Devo Milestones--What can baby do at 30 months?

walk upstairs w/ alternating feet, stand on 1 foot, knows name, refers to self as "I"

Devo Milestones--What can baby do at 4yo?

copy cross and square, hop on 1 foot, throw ball overhead, group play and go to toilet alone

Devo Milestones--What can baby do at 9mo?

sit unsupported, Pincer grasp, walk w/ hand held, object permanence, peak-a-boo, bye-bye

Devo Milestones--What can baby do at 3yo?

walk downstairs, copy circle, jump with both feed, know age/sex, understand taking turns, count to 3

Devo Milestones--What can baby do at 24mo?

2-3 word sentences, 50% speech understandable, runs, builds 7-cube tower, holds spoon, helps undress

Devo Milestones--What can baby do at 2mo?

social smile, cooing, sustains head in plane of body, follows object 180˚, some vowel sounds

Urinary continence should be attained by ___.

5yo

____ urinary incontinence is if it is never achieved, whereas ___ is if it occurs after 6mo period of dryness

primary; secondary

Urinary incontinence--medical causes to r/o

UTI (do a UA), constipation (disimpact) or Diabetes (check sugar)

Tx of enuresis

(1) behavioral reward system, pee before bed, bell-alarm pad (2) DDAVP/imipramine

Fecal continence should be attained by _____

4yo

MCC fecal incontinence; tx

constipation (disimpact), fecal retention; stool softeners, high fiber diet, post-prandial toilet sitting

Vaccines--at birth

HepB [+HepBIV if mom is HbsAg +]

Vaccines--2mo, 4mo, 6mo

HepB, Rota, Dtap, HiB, PCV, IPV (inactivated polio vac)

Vaccines--start at 6mo and then yearly

influenza [contra--egg allergy]

Vaccines--at 12 mo

MMR, varicella, HepA [live vaccines not for

Contraindication to MMR vaccine

neomycin or streptomycin allergy

Vaccines-before age 2

Dtap and 2nd HepA (6mo after first one)

Vaccines--before kindergarden

last IVP, Dtap, MMR and varicella

Vaccines--age 12

Tdap booster, meningococcal vaccine, HPV