Term
| What is the MC inheritable form of mental retardation in males? |
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Definition
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Term
| In what genetic condition are brush field spots common? |
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Definition
| Down Syndrome (Trisomy 21) |
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Term
| What is the genetic difference between Angelman's and Prader Willi's syndrome? |
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Definition
Angelman's = Maternal deletion of 15q11
Prader Willi's = Paternal deletion of 15q11 |
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Term
| What is the MC cause of primary amenorrhea? |
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Definition
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Term
| What must ALL down's syndrome pts have in order to be cleared for sports? Why? |
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Definition
| cervical spine x-ray before being cleared for sports due to risk of atlantoaxial dislocation. |
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Term
| At what age do down's syndrome pts begin to develop Alzheimer's? |
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Definition
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Term
| What is considered extremely low birth weight? |
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Definition
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Term
| What is considered to be very low birth weight? |
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Definition
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Term
| What is considered to be low birth weight? |
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Definition
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Term
| What is considered normal birth wt? |
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Definition
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Term
| What is considered pre-term? |
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Definition
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Term
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Definition
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Term
| What is considered post-term? |
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Definition
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Term
| What is the Ballard-score used for? |
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Definition
| method to estimate gestational age |
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Term
| When is the Ballard Score most accurate? |
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Definition
| Most accurate when performed at 12-20 hrs of age. |
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Term
| What may a failure to see a red reflex indicate? |
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Definition
cataracts,
glaucoma,
retinoblastoma
chorioretinitis |
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Term
| What routine meds are given to newborns in the US? |
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Definition
Vitamin K (IM)
topical ophthalmologic antibiotic
Hepatitis B vaccine {Hepatitis B immunoglobulin (HBIG) if mom is Hep B Positive} |
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Term
| If a pt presents with multiple micronodular juvenile xanthogranulomas, what must you do and why? |
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Definition
| Ophthalmologic referral to rule out an associated hyphema |
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Term
| What is a lacunar skull > 3cm associated with? |
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Definition
| Arnold-Chiari Malformation or Myelomeningocele |
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Term
| What is the tx for malrotation? |
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Definition
| emergency surgical intervention |
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Term
| If a pt presents with fever, intermittent colicky abdominal pain, currant jelly stools and a sausagelike abdominal mass, what condition do you suspect? |
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Definition
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Term
| If a pt presents with projectile vomiting, an olive-shaped abdominal mass and hypochloremic metabolic acidosis, what condition do you suspect? |
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Definition
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Term
| If a pt presents with abdominal pain that began in the periumbilical region and migrated to the RLQ, feels anorexic and had emesis, what condition do you suspect? |
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Definition
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Term
| What is the tx of appendicitis? Why? |
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Definition
| surgical management to prevent risks of perforation and intraabdominal abscess formation. |
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