Step_2_GenPeds

Name the genetic diseases that are autosomal dominant.

Which genetic diseases are autosomal recessive?

Genetic diseases that are x-linked?

Infant with hypotonia, VSD, palmer creases, characteristic facies

Co-morbidities of Downs syndrome?

Female infant with small head, retardation, hypoplastic mandible, low set ears, clenched fist with index finger overlapping third and fourth fingers.

Infant with mental retardation, apnea, deafness, holoprosencephaly, myelomeningocele, cardio abnormalities, rocker bottom feet.

Infant with lymphedema of neck at birth, shsort stature, webbed neck, widely spaced nipples, amenorrhea, lack of breasts; possibly has coarctation of the aorta, horshoe kidneys or benign neck mass.

Tall patient with gynecomastia, sterility, microtestes, mild retardation

Infant with high pitched cry, small head, low birth weight, and severe mental retardation

Child with overeating , obesity, decreased muscle tone, mental retardation, small hands and feet.

Puppet-like movements, happy mood, unprovoked laughter, mental retardation, seizures.

Male pt with prominent jaw, large ears, large testicles, hand/foot abnormalities, mental retardation and hyperactivity

Premature infant with IUGR, facial abnormalities, stroke symptoms, and mental retardation. What is the cause?

Child with mental retardation, IUGR, sensory and motor neuropathy, facial abnormalities. Cause?

Premature Infant with IUGR, meconium pneumonia, neonatal infections, narcotic withdrawal. Cause?

Infant with IUGR, congenital heart defects, a cleft palate. Cause?

Infant with renal abnormalities and decreased skull ossification. Cause?

Infant with CN VIII damage, skeletal abnormalities, and renal defects. Cause?

Infant with facial abnormalities, IUGR, mental retardation, cardio abnormalities, and neural tube defects. Cause?

Effects of Chemo on fetus?

Infant with cleft palate, renal defects, and secondary neoplasms? Cause?

What medication can cause vaginal or cervical cancer in the fetus when she grows up?

What medication causes cartilage abnormalities?

What are the fetal risks when the mother uses Heparin?

What are the fetal effects of phenytoin?

What are the teratogenic effects of retinoids?

What are the effects of Sulfonamides on a fetus?

What are the effects of valproate on a fetus?

What are the effects of warfarin on a fetus?

Hydrocephalus, intracranial calcifications, chorioretinities, microcephaly, spontaneous abortion, seizures are signs of what type of congenital infection?

Prematurity, encephalitis, pna, IUGR, CNS abnormalities, limb abnormalities, blindness, high risk of neonate death if infection is active are signs of what type of congenital infection?

Respiratory distress, PNA, Meningitis, and sepsis are signs of what type of congenital infection?

Spontaneous abortion, neonatal sepsis, conjunctivitis are signs of what type of congenital infection?

Spontaneous abortion, skin lesions (blue berry muffin baby), IUGR, deafness, CV vision or CNS abnormalities, hepatitis are signs of what type of congenital infection?

Prematurity, IUGR, spontaneous abortion, high risk of neonatal death are signs of what type of congenital infection?

IUGR, chorioretinitis, CNS abnormalities, mental retardation, vision abnormalities, deafness, hydrocephalus, seizures, hepatosplenomegaly are signs of what type of congenital infection?

Prematurity, IUGR, spontaneous abortion, neonatal death or CNS abnormalities are signs of what type of congenital infection?

Neonatal anemia, deafness, hepatosplenomegaly, pna, hepatitis, osteodystrophy, 25% neonatal mortality are signs of what type of congenital infection?

Rx for toxoplasmosis infection of fetus?

Rx for varicella zoster fetus infection/exposure?

Rx for Group B strep infected fetus or neonate?

Rx for Gonorrhea/Chlamydia infected fetus?

Rx for fetus infected with Rubella?

Rx for rubeola infected fetus?

Rx for CMV infection in fetus/neonate?

Rx for fetal / neonate infection of Hep B?