Congenital / Chromosomes

Card Set Information

Author:
kboyne3
ID:
118162
Filename:
Congenital / Chromosomes
Updated:
2011-11-20 18:11:27
Tags:
congenital pediatric chromosomes
Folders:

Description:
Congenital Malformations & Chromosomal Anomalies
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user kboyne3 on FreezingBlue Flashcards. What would you like to do?


  1. Trisomy 21 S/Sx
    • MR - IQ 35-70
    • general hypotonia (CNS origin; meet most major milestones at 2x normal age)
    • balding scalp hair pattern
    • upslanted eyes w/epicanthal folds
    • extra neck skin folds
    • flat nasal bridge, prominent tongue
    • joint laxity
    • brushfield's spots on irises
    • subendocardial cushion defect (ASD/VSD, AV canal)
    • duodenal atresia, Hirschsprung's, imperforate anus
    • hypothyroid (screen yearly)
    • early onset dementia
    • increased risk leukemia
    • atlantoaxial instability
  2. Chromosome 21 encodes 2/3 proteins needed to assemble...
    triple helix of collagen VI - abnormal in Downs; imp in scaffolding during embryologic development of nervous & connective tissue
  3. S/Sx Trisomy 18
    • low set ears, small mouth, short sternum
    • thumb & radius agenesis/hypoplasia
    • camptodactyly (little finger fixed in flexion)
    • redundant cardiac valve leaflets
    • hypertonia
    • seizures
    • rocker bottom feet
    • **only 5-10% survive beyond 1st yr
  4. S/Sx Trisomy 13
    • holoprosencephaly (fail telencephalon to divide to 2 hemispheres; central lg ventricle)
    • microphtalmia + other eye defects
    • midline facial cleft
    • polydactyly
    • scalp cutis aplasia
    • cystic kidneys
    • VSD
    • **5% survive past 6 mos
  5. Turner's - chroms?
    45, XO
  6. S/Sx Turner's Syndrome
    • short stature
    • phenotypically female
    • perygium colli (webbed neck)
    • smll mandible, narrow maxilla, high arch palate
    • epicanthal folds
    • increased distance btw nipples
    • pedal edema
    • cubitus valgus
    • impaired hearing (sensorineural)
    • delayed motor skill development w/ normal intelligence
    • coarctation of aorta + bicuspid aortic valve
    • ovarian dysgenesis
  7. Klinefelter's chroms? / etiology
    • extra X chromosome in males
    • 47, XXY most common
    • 48, XXXY or more also seen

    (1/500 males; advanced maternal age is risk factor)
  8. S/Sx Klinefelter's
    • hypogonadism
    • azoospermia
    • tall
    • female hair distribution
    • learning disabilities
    • delayed motor skill development
    • Barr body present (inactivated x chrom)
  9. Tx Klinefelter's
    • admin testosterone during puberty to improve secondary sex characteristics
    • developmental delay/learning disabilities interventions
  10. Angelman's syndrome Etiology
    • 75% maternal deletion 15q11 -> q13
    • 23% chrom 15 mutations
  11. S/Sx Angelman's
    • happy, laughing disposition ('happy puppet')
    • attractive, lighter pigmentation than family
    • MR (severe)
    • microcephaly
    • ataxia
    • hypotonia
    • epilepsy (80%) w/ EEG findings
    • absent speech
    • lg. mandible, open-mouthed expression revealing tongue
  12. Angelman's Tx
    • supportive
    • seizures often refractory to anticonvulsant therapy
    • normal life span
  13. Prader Willi etiology
    • 75% paternal deletion 15q11--> q13
    • 25% maternal disomy
  14. Prader-Willi & obesity
    hyperphagia/lack of satiety, decreased caloric requirement 2/2 to hypotonia/decreased movement, & obsessions/compulsions that focux on food --> vicious cycle
  15. S/Sx Prader-Willi
    • hypotonia & poor feeding in infants --> hyperphagia/obesity
    • precocious puberty
    • micropenis
    • mild MR
    • sleep disturbances
    • lighter pigmentation than family
    • sig behavior probs (stubborn, manipulate, aggressive)
    • fluent speech
    • obsess/compulsive traits
  16. Prader-Willi Tx
    • growth hormone to promote stature; other hormone supplementation to promote secondary sex characteristics
    • obesity complications limit life span
  17. XYY males S/Sx
    • normal/ low-norm intelligence
    • phenotypically normal
    • tall, severe acne
    • rarely, antisocial behavior
  18. XXX Syndrome S/Sx
    • 47, XXX
    • phenotypically normal female w/ norm sex development & menarche
    • variable severity of speech/language delays, lack coordination, & poor academic performance
    • may be gangly, tall, & have behavior disorders
  19. XXXX or XXXXX S/Sx
    • MR, worse w/ increasing # X's
    • epicanthal folds, hypertelorism, clinodactyly, CHD, radioulnar synostosis
    • often incomplete sex maturation
    • often tall w/XXXX, short w/ XXXXX
  20. Noonan's syndrome - chroms? etiology?
    • 46, XX
    • 46, XY
    • chrom 12
  21. Noonan's syndrome S/Sx
    • similar to Turner's
    • facies: traingular, hypertelorism, down-slanting eyes, ptosis, strabismus, amblyopia, low set ears w/ thick helices, high nasal bridge, short, webbed neck
    • pectus carinatum/excavatum, scoliosis
    • cardiac: pulm stenosis, ASD, or hypertropic cardiomyopathy
    • assorted skeletal abnormalities
    • skin: lymphedema, prominent pads of digits
    • neuro: hypotonia
    • MR in 25%
    • delayed sex maturation, premature ovarian failure; >1/2 males have undescended testes
  22. Fragile X etiology/epidemiology/risk factors
    • Etiol: x-linked dominant, triplet repeats
    • Epidem: 1/2,000 births; M=F
    • Risk: family hx
  23. Fragile X S/Sx
    • MR
    • macroorchidism in boys
    • protruding ears
    • triangular, elongated facies
    • flat malar bones
    • shyness, autistic behavior, avoidance of eye contact
  24. Alport's Syndrome
    • rare, x-linked recessive disorder of basement membranes of kidney, eye, & ear (type IV collagen)
    • glomerulonephritis, ESRD by age 40 (men)
    • hearing loss (90% of males)
  25. male adolescent presents w/ hematuria, proteinuria, & decreased hearing
    Think: Alport's syndrome
  26. Autosomal Dominant Conditions
    ppl in every generation affected
  27. Autosomal Recessive Conditions
    • skips generations (often parents w/ similar condition)
    • hx early deaths from unknown d/o's or multiple miscarriages
    • consanguinity increases odds
  28. X-linked recessive conditions
    • only males affected
    • females unaffected or only partially affected (due to lyonization) carriers of the trait
  29. cleft palate/lip repair
    • surgical repair of lip w/i first mos of life
    • palate ~1 yr of life
    • potential for final repairs & scar revisions in adolescence
  30. cleft lip/palate pathophysiology
    • clefting of lip & anterior (primary) palate due to defect in fusing of both maxillary processes w/frontonasal process during weeks 5-6
    • clefting of posterior (secondary) palate due to defect in fusion of palatal shelves during weeks 7 & 8
  31. Omphalocele definition + tx
    • herniation of abdominal contents (usually only intestine) through umbilical root, covered only by peritoneum
    • Tx - serial reductions of intestines back into abdomen until skin closure possible
  32. Oligohydramnios definition + complications
    • AFI < 5.0 cm
    • Complications: fetal demise; pulmonary hypoplasia; facial deformities; skeletal deformities (compressed thorax, twisted feet)
  33. Potter's syndrome definition
    • bilateral renal agenesis
    • includes: pulmonary hypoplasia, skeletal anomalies, & characteristic facies (sloping forehad, flat nose, recessed chin, lowset, floppy ears)
    • incompatible w/ neonatal life

What would you like to do?

Home > Flashcards > Print Preview