What is renal agenesis? - Answers 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
What is patent arachus? - Answers 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
What is hydronephrosis? - Answers most common, accumulation of urine within the renal pelvis, 1/100
or 1/500 pregnancies, classified in grades of 1-V, many cases resolve spont. kidney damage can occur in
severe cases
What is horse-shoe kidney and incidence? - Answers 1/400-800 births, poles of kidney are fused,
predisposed to higher incidence of hydronephrosis, stone formation, infection, certain CAs
What is exstrophy of the bladder and management? - Answers exposure of bladder on outside of
abdominal wall, complicated by ass. genitourinary anomalies, rare, repaired surgically
What is hypospadius and incidence? - Answers 1/300 male births, urethral opening on ventral aspect of
penis, 3 types, penis is often underdeveloped and curved ventrally (chordee), circumcision is
contraindicated; rare in females with urethral opening in vagina
Describe the types of hypospadius. - Answers Subcoronal: urethral opening near head of penis
Midshaft: urethral opening along penal shaft
Penoscrotal: urethral opening where penis and scrotum meet
What is epispadias? - Answers Congenital absence of anterior urehtral wall, urethral opening on dorsal
surface of penis, must be surgically repaired
What is cleft lip and palate, incidence and management? - Answers 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
What is esophageal atresia and s/sx? - Answers abnormal development of esophagus ending in a blind
pouch; s/s drooling, poor feeding with reflux, acute resp. distress and cyanosis with feeding
What is tracheo-esophageal fistula and s/sx? - Answers 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
What is pyloric stenosis, incidence, s/sx and management? - Answers 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
, What is Diaphragmatic hernia, s/sx and management? - Answers 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
What is gastroschisis and management? - Answers 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
What is omphalocele and management? - Answers 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
What is Spina Bifida oculta, incidence, s/sx and management? - Answers 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 tuft
of hair
What is meningocele? - Answers extrusion of meninges and cerebrospinal fluid, bony defect
What is myleomeningocele? - Answers extrusion of spinal cord; loss of sensory and motor function,
surgical repair, position prone
What is anencephaly, incidence, diagnostic test and management? - Answers 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
What are causes and clinical signs of microcephaly? - Answers causes: abnormal development of CNS,
genetic, environmental (ETOH, CMV, radiation), clinical signs: small brain and calvaria (face is normal
size), gross mental retardation
What are causes and clinical signs of hydrocephaly? - Answers 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
What is choanal atresia, s/sx and management? - Answers 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
What is pulmonary hypoplasia/angenesis and s/sx? - Answers underdevelopment or absence of one or
both lungs; ass. with other abnormalities such as diaphragmatic hernia; high mortality; s/s: acute resp.
distress and thoracic asymmetry