QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS
VERIFIED BY EXPERT GRADED A++
Renal agenesis
failure of kidney formation; unilateral- 1/1000, male, ass. with single umbilical artery and
bilateral- 1/3000, ass. oligohydramnios, most die shortly after birth-3months
patent arachus
perisitence of fetal opening between the bladder and umbilical cord, may appear as a
dimple or indentation in the base of the umbilical cord, repair surgically
hydronephrosis
m/c, accumulation of urine within the renal pelvis, 1/1000 or 1/500 pregnancies,
classified in grades of 1-V, many cases resolve spont. kidney damage can occur in
sever cases
horse-shoe kidney
1/400-800 births, poles of kidney are fused, predisposed to higher incidence of
hydronephrosis, stone formation, infection, certain CAs
exstrophy of bladder
exposure of bladder on outside of abdominal wall, complicated by ass. genitourinary
anomalies, rare, repaired surgically
ambiguous genitalia
,anomalies of external genitalia, cannot identify sex of newborn, often associated with
internal genital anomalies; sex type determined by chromosome studies
hypospadius
1/300 male births, urethral opening on ventral aspect of penis, types:
Subcoronal: urethral opening near head of penis
Midshaft: urethral opening along penal shaft
Penoscrotal: urethral opening where penis and scrotum meet
circumcision is contraindicated; rare in females with urethral opening in vagina
epispadias
urethral opening on dorsal surface of penis, must be surgically repaired
cleft lip and palate
1/500-2500, incomplete fusion of lip, palate or lip and palate, interference with feeding
and weight gain, surgical repair, sometimes ass. with other abnormalities
esophageal atresia
abnormal development of esophagus ending in a blind pouch; s/s drooling, poor feeding
with reflux, acute resp. distress and cyanosis with feeding
tracheo-esophageal fistula
abnormal development of esophagus and trachea with a fistula in between; s/s drooling,
poor feeding with reflux, acute resp. distress and cyanosis with feeding; surgical repair
with good prognosis
pyloric stenosis
,1-3/1000; > in male infants, obstruction of the distal end of the stomach, s/s: vomiting,
visible gastric peristalsis, constipation; often not noticed till 2 weeks old; surgical repair
has good outcomes
Diaphragmatic hernia
herniation of abdominal contents into the thoracic cavity, displacement of heart and
lungs; s/s: resp. distress, scaphoid abdomen, lung sounds in left of chest and heart
sounds on right; tx: emergent tx, endotracheal intubation with PPV- no bag mask
ventilation, feeding tube to low suction, surgical repair
gastroschisis
defect of the abdominal wall with evisceration of abdominal organ (uncovered organs
next to umbilicus); rare, ass. with other anomalies, infection, hypothermia, dehydration ;
tx at birth: cover with sterile saline soaked gauze and then plastic, no oral intake, IV
hydration, GT to compress gut, surgical repair
omphalocele
1/3000-1/6000 births, >males, herniation of abdominal viscera through umbilical ring
(usually covered with membranes, ass. with other anomalies; tx at birth: cover with
sterile saline soaked gauze and then plastic, no oral intake, IV hydration, GT to
compress gut, surgical repair
Neural tube defects
causes are genetic, nutritional, environmental; prevention: vitamins/ folic acid prior to
conception, folic acid recommendation has dropped NTD
Spina Bifida oculta
, failure of the halves of the vertebral arch to fuse; occurs 5-10% of population, minor
anomaly of the spine, usually no clinical symptoms, diagnosed by radiography, spinal
cord and nerves are normal, occasionally indicated by hair
meningocele
extrusion of meninges and cerebrospinal fluid, bony defect
myleomeningocele
extrusion of spinal cord; loss of sensory and motor function, surgical repair, position
prone
anencephaly
partial absence of the brain; may be ass. with spina bifida; dx testing: u/s; 0.2/1000;
incompatible with life (75%) are still born, supportive management
microcephaly
causes: abnormal development of CNS, genetic, environmental (ETOH, CMV,
radiation), clinical signs: small brain and calvaria (face is normal size), gross mental
retardation
hydrocephaly
impaired circulation and absorption of CSF, possible increase production of CSF; s/s:
enlargement of head may or may not be present, separated sutures, bulging tense
fontanelles, high pitched cry, downward deviation of eyes
choanal atresia
congenital blockage of posterior nasal passages, unilateral- respiration not affected,
bilateral- respiratory distress present at birth; effects mostly females; s/s: retractions,
severe cyanosis, pink when crying (infants are nose breathers); tx: surgical repair