disease manifestations Flashcards
(30 cards)
Down syndrome
-Trisomy 21
-cardiac defects
-intestinal malformations
-vision abnormalities
-hearing loss
-recurrent respiratory infections
-memory loss w/increased risk of Alzheimer’s
-decreased muscle tone
-flat facial features
small nose
-upward slant of eyes
-hyper-flexibility
-wide gap between 1st and 2nd toes
Klinefelter syndrome
- XXY genotype
- small testes
- abnormally low sperm count
- elevated levels of FSH and LH
- decreased serum testosterone
- abnormal arm and leg length
- increased risk of breast cancer and pulmonary disease
- impaired psychosocial skills (ADHD, impaired judgment, lack of insight)
- impaired higher language skills
- increased risk of non-hodgkin’s lymphoma, leg ulcers, and diabetes
Turner syndrome
- XO genotype
- short, wide chest
- prominent neck skin folds (webbed neck)
- usually sterile, low estrogen
- small breasts
- normal mental development
- hearing loss
- hypothyroidism
- autoimmune thyroiditis
- elevated liver enzymes
- primary amenorrhea
- osteoporosis
- abnormal renal structures
- diabetes
- hyperlipidemia
- hypertension
- aortic dissection
- increased CV mortality
Thalidomide
- 1950’s sedative for pregnant women
- crossed placenta
- amelia (no limbs)
- meromelia (partial limb)
- phocomelia (absence of long bones)
- deafness
- blindness
- cleft palate
- congenital heart disease
- malformation of ear
- intellectual disability and autism
- urogenital and gastrointestinal defects
Diethylstilbestro (DES)
- potent estrogen
- used to prevent spontaneous abortion
“DES daughters”
- twofold increase in vaginal and cervical intraepithelial neoplasm
- structural defects in cervix, uterus, or fallopian tubes
- infertility and poor pregnancy
“DES sons”
-increased risk for epididymal cysts, microphallus, cryptorchidism, testicular hypoplasia, decreased sperm count
Vitamin A (as teratogen)
- cleft lip
- cleft palate
- hydrocephalus
- cardiac deformities
Isotretinoin
- used in treatment of cystic acne
- increases risk of spontaneous abortion (20-30%)
- malformations can involve any organ system
ACE inhibitors (as teratogen)
when used in 2nd or 3rd trimester:
- growth retardation
- renal dysfunction
- fetal demise
- oligohydramnios (less amniotic fluid = fetal distress)
SSRI (as teratogen)
- may increase risk for spontaneous abortion
- increased risk of cardiovascular defects
Anticonvulsants (as teratogen)
- cleft palate
- cleft lip
- atrial septal defects
- spina bifida
- development delay
- limb abnormalities
NSAIDs (as teratogen)
- cardiac ventricular and septal defects
- pulmonary hypertension
- possible increased rate of spontaneous abortion
Warfarin (as teratogen)
- skeletal abnormalities
- nasal hypoplasia
- long bone development abnormalities
- limb hypoplasia
Benzodiazepines (as teratogen)
- neonatal withdrawal
- hypoplasia (decreased muscle tone)
- cyanosis
- “floppy infant syndrome”
Fetal Alcohol Syndrome (FAS)
- irritability, jitteriness, sleep disruption
- coordination or balance abnormalities
- diminished IQ
- memory and cognitive impairment
- ADD/ADHD
- inappropriate behavior; lack of social cues
- small head
- low nasal bridge
- epicanthal folds
- flat mid face
- smooth philtrum
- thin upper lip
- underdeveloped jaw
Tobacco (as teratogen)
- preterm delivery
- low birth weight
- SIDs
- placenta previa
- cleft lip or palate
- gastroschisis (organs outside of body)
- limb reduction
- digital defects
- cardiac defects
Opioids (as teratogen)
-congenital heart defects
-fetal growth restriction
-abruptio placenta (placenta pulls away)
-fetal death
-preterm labor
look for:
-high pitched cry
-poor feeding
-irritability
-altered sleep patterns
-abnormal reflexes; hypertonicity
-feeding difficulties
-seizures
-respiratory complications
-small for gestational age
Toxoplasmosis (mother)
- fatigue
- fever
- headache
- malaise
- myalgia
- lymphadenopathy
Congenital toxoplasmosis
- chorioretinitis
- hydrocephalus
- intracranial calcifications
- jaundiced
- enlarged spleen
- enlarged liver
- seizures
Congenital Syphilis
-nasal discharge - white to bloody
-heptaomegaly
-rash
-lymphadenopathy
-CNS; seizures, hydrocephalus
-hematologic abnormalities
-long bone development abnormalities
Later stages:
-saddle nose
-keratinitis
-glaucoma
-corneal scarring
-optic atrophy
-abnormal tooth development
-fissures around mouth
-intellectual disability, hydrocephalus
-arthritis and joint abnormalities
Congenital Rubella
-fetal death
-premature delivery
-intrauterine growth retardation
-low birth weight
-hearing loss
-microcephaly
-cataracts
-hepatosplenomegaly
-diabetes
-thyroid dysfunction
-encephalitis
-bone lesions
-meningoencephalitis
-purpura and petechiae
(blueberry muffin rash)
Cytomegalovirus (CMV)
member of herpes family
mother has mono-like symptoms
child has: -progressive hearing loss -jaundice -small gestational age -hepatomegaly -petichiae and purpura (blueberry muffin rash) -microcephaly -seizures -feeding difficulty -retinal scars chorioretinitis -optic atrophy -central vision loss -abnormal blood counts -elevated liver function -elevated bilirubin -hemolytic anemia
Herpes Simplex (intrauterine)
rare but serious
- infarcts of placenta
- inflammation of umbilical cord
- hydrops fetalis
- fetal demise
- skin vesicles, ulceration, scarring
- ocular damage
- microcephaly; CNS deformities
Herpes Simplex (neonatal)
- fever/sepsis
- apnea
- irritibility
- lethargy
- respiratory distress
- abdominal distention
- hepatitis
- hyperbilirubinemia
- neutropenia/thrombocytopenia
- Disseminated intravascular coagulation (bleed to death)
- hemorrhagic pneumonitis
- necrotizing enterocolitis (bowel death)
- meningoencephalitis and seizures
- skin vesicles
- respiratory and liver failure
- mortality exceeds 80% when untreated
Hemophilia
- mutation in F8 or F9 gene on X chromosome
- hemophilia A and B are typically indistinguishable; A is more common
- X-linked recessive
- males more affected
- newborns can present with intracranial hemorrhage and seizures
- excessive bruising, hematomas, hemarthroses (bleeding into joint capsule)
- epistaxis
- bleeding after coughing
- blood in stool
- hematuria
- menorrhagia
