Chapter 2: Developmental, Congenital, and Childhood Diseases and Disorders: Diagnosis Flashcards

1
Q

What is the diagnosis of Preterm Birth or Prematurity

A

Neonates small for gestation age; low weight infants (may or may not)

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2
Q

What is the diagnosis of Infant Respiratory Distress Syndrome

A

increase respiratory efforts and history of prematurity; radiograph shows infiltrate or hyaline membrane

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3
Q

What is the diagnosis of Bronchopulmonary Dysplasia

A

radiograph shows abnormal alveolar damage, “ground glass”; ABG’s

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4
Q

What is the diagnosis of Retinopathy of Prematurity

A

ophthalmoscope to visualize retina

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5
Q

What is the diagnosis of Necrotizing Enterocolitis

A

CBC and elevated WBC count; guaiac test positive

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6
Q

What is the diagnosis of Robinow Syndrome

A

genetic study showing chromosome defect; observation of small stature

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7
Q

What is the diagnosis of Hypertrophic Cardiomyopathy

A

young people who have collapsed during exercise; family history of cardiac arrest; ECG/MRI

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8
Q

What is the diagnosis of Down Syndrome

A

identified at or before birth; mild forms diagnosed later; karyotype showing chromosomal abnormality

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9
Q

What is the diagnosis of Cerebral Palsy

A

clinical picture and neurologic examination

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10
Q

What is the diagnosis of Muscular Dystrophy

A

muscle biopsy and electromyography; elevated serum creatine kinase

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11
Q

What is the diagnosis of Spina Bifida Occulta

A

blood levels of AFP; prenatal ultrasonography or postnatal examination

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12
Q

What is the diagnosis of Meningocele

A

visual examination of spinal area and presence of a sac; radiographs confirm

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13
Q

What is the diagnosis of Myelomeningocele

A

physical examination; electromyography extend of neurologic involvement

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14
Q

What is the diagnosis of Hydrocephalus

A

clinical picture and physical exam; CT and MRI

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15
Q

What is the diagnosis of Anencephaly

A

ultrasound of fetal head; elevated AFP levels

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16
Q

What is the diagnosis of Transposition of the Great Arteries

A

palpates neck vessels and auscultates for BP and murmurs; blood tests; cardiac catheterizations

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17
Q

What is the diagnosis of Clubfoot (Talipes Equinovarus)

A

obvious at birth

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18
Q

What is the diagnosis of Developmental Dysplasia of the Hip

A

positive Ortolani and Barlow maneuvers; ultrasound of hip

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19
Q

What is the diagnosis of Cleft Lip and Palate

A

obvious at birth

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20
Q

What is the diagnosis of Cryptorchidism (Undescended Testes)

A

visual examination; palpation, starting above inguinal ring and pushing downward on inguinal canal toward scrotum

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21
Q

What is the diagnosis of Wilms’ Tumor

A

physical examination to palpate kidneys; blood tests for kidney and liver function; US/CT/UA

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22
Q

What is the diagnosis of Phimosis

A

inability to slide prepuce back over glans penis

23
Q

What is the diagnosis of Congenital Pyloric Stenosis

A

history and patient condition; UGIS; ultrasound of pylorus

24
Q

What is the diagnosis of Hirschprung’s Disease (Congenital Aganglionic Megacolon)

A

radigraph of bowel; biopsy that confirms absence of ganglionic cells

25
What is the diagnosis of Cystic Fibrosis
genetic testing prenatally if parents are known carriers; sweat test elevated sodium and chloride
26
What is the diagnosis of Phenylketonuria
mandatory screening of newborn blood; positive guthrie test
27
What is the diagnosis of Klinefelter's Syndrome
physical examination; serum and urine gonadotropin levels; semen analysis; chromosomal smear confirms
28
What is the diagnosis of Turner's Syndrome
chromosomal smear shows only one X chromosome
29
What is the Diagnosis Chickenpox (Varicella Zoster)
characteristic skin rash is usually all that's necessary
30
What is the diagnosis of Diptheria
membrane adhering to throat; culture of throat positive for C
31
What is the diagnosis of Mumps (Epidemic Parotitis)
clinical picture/swelling of parotid glands; male testes tenderness; polymerase chain react (PCR) confirmation
32
What is the diagnoisis of Pertussis (Whooping Cough)
bacteria studies positive for pertussis bacillus; PCR test; increased WBC count
33
What is the diagnosis of Measles (Rubeola)
clinical picture; rash and Koplik's spots on oral mucosa
34
What is the diagnosis of (German Measles, Three-Day Measles)
clinical picture including rash; throat culture for rubella virus and serologic studies
35
What is the diagnosis of Tetanus
patient is fiercely ill; lab tests not always definite
36
What is the diagnosis of Sudden Infant Death Syndrome (SIDS)
complete postmortum investigation, including autopsy, review of medical history, and examination of scene of death fail to identify cause
37
What is the diagnosis of Croup
blood or throat cultures; radiographs of airway show "steeple sign"; rule out foreign body obstruction
38
What is the diagnosis of Epiglotitis
radiograph reveals epiglottitis; throat examined to inspect epiglottis
39
What is the diagnosis of Acute Tonsillitis
throat examined and throat culture is performed; increase WBC can be elevated
40
What is the diagnosis of Adenoid Hyperplasia
visualized on lateral pharyngeal radiograph films or nasopharyngoscopic exam
41
What is the diagnosis of Asthma
PFT's; radiographic chest films-hyperinflation
42
What is the diagnosis of Bronchiolitis
patient history and physical examination; radiograph to rule out pneumonia; throat culture
43
What is the diagnosis of Infantile Colic
symptoms and physical examination to rule out other causes
44
What is the diagnosis of Helminth (Worm) Infestation
detection of eggs or worms in anal opening by placing of transparent adhesive tape in perianal area
45
What is the diagnosis of Diarrhea
fluid and electrolyte status and underlying cause; history and severity of symptoms
46
What is the diagnosis of Vomiting
evaluated in total state of health; determine underlying cause
47
What is the diagnosis of Anemia
laboratory testings for signs and symptoms of anemia; hematocrit, serum iron levels; hemoglobin, bone marrow studies
48
What is the diagnosis of Leukemia
peripheral blood smear; leukocytosis, neutropenia, anemia, thrombocytopenia; many laboratory tests
49
What is the diagnosis of Erythroblastosis Fetalis (Hemolytic Disease of the Newborn)
Coombs' test of umbilical cord measures Rh-positive antibodies in newborn; amniotic sac analyzed for hemolysis
50
What is the diagnosis of Lead Poisoning
blood test reveals anemia and lead greater than 5 ug/dl;
51
What is the diagnosis of Reye's Syndrome
blood studies show elevated serum ammonia levles; history and clinical features
52
What is the diagnosis of Fetal Alchohol Syndrome (FAS)
clinical features present in newborn; maternal history of alcoholism
53
What is the diagnosis of Diaper Rash
differentiate between seborrheic dermatitis, eczema, and other skin infections
54
What is the diagnosis of Neuroblastoma
measurement of urine and serum catecholamine levels; biopsy of mass gives diagnosis; CT