Developmental Disease

Question 1

Sacrcoccygeal teratoma

Answer 1

Primitive streak (remnants); Prognosis good after surgery

Question 2

Ectopia cordis

Answer 2

Defect in lateral folding; Prognosis not good

Question 3

Chordoma

Answer 3

Notochord (remnants); malignant invades bone and can be in base of skull or lumbosacral region

Question 4

Gastroschisis

Answer 4

Defect in Lateral folding; Intestine herniates outside ab; Prognosis good after surgery

Question 5

Spina bifida cystica occulta

Answer 5

Malformation of vertebral arch. Fluid filled subarachnoid space; Tuft of hair; no bulge over defect; no neuro Sx

Question 6

Spina bifida cystica with meningocoele

Answer 6

malformation of vertebral arch; no neuro Sx; bulge over defect, contains meninges/CSF;

Question 7

Spina bifida cystica with meningomyelocoele

Answer 7

malformation of vertebral arch; Possible neuro problems; Bulge over defect; contains meninges, cord, nerve roots

Question 8

Spina bifida with myeloschisis

Answer 8

Failure of caudal neuropore to close; Open cord is mass of neural tissue on surface

Question 9

Tracheoesophageal fistula (TEF)

Answer 9

Abnormal opening b/w trach. & esoph; Esophageal atresia; Coughing, choking when swallowing fluid; polyhydramnios

Question 10

Resp. Distress Syndrome (RDS)

Answer 10

Surfactant deficiency (Type II pneumocytes)

Question 11

Oligohydramnios

Answer 11

Insufficient amniotic fluid; Poor lung development

Question 12

Polyhydramnios

Answer 12

Excess amniotic fluid; Occurs in meroanencephaly, multiple preg, diabetes mellitus & esophageal fistula

Question 13

Congenital diaphragmatic hernia

Answer 13

failure of pleuroperitoneal membranes to fully develop; Flattened ab, gut enters thorax; Reduced thoracic space; lung unable to develop; No separation b/w intestines & pleural cavity

Question 14

Retrosternal/parasternal hernia

Answer 14

Diaphragmatic defect; Gut herniate into pericardial sac

Question 15

Eventration of diaphragm

Answer 15

Failure of body wall muscle to extend into pleuroperitoneal membrane; Contraction of diaphragm leads to non-muscular portion ballooing into thorax pushed by ab viscera; Only membranous sheet is present, i.e. Separation b/w intestine & pleural cavity; relatively rare

Question 16

Hydatiform mole (H-mole)

Answer 16

no or little embyronic tissue present; trophoblast develops well; hCG produced; may give rise to choriocarcinoma

Question 17

Placenta Previa

Answer 17

Ectopic pregnancy in internal os resulting in severe bleeding in late stage of pregnancy

Question 18

Probe patency

Answer 18

Failure of anatomical closure results in functional closure only so a probe may be passed through oval foramen

Question 19

ASD

Answer 19

Left to Right shunt (Acyanotic); pushes oxygenaetd blood to pulm circulation; ostium (foramen) secundum defect most common

Question 20

Common atrium (cor trilocolare)

Answer 20

Absence of interatrial septum due to failure of septum primum and septum secundum to develop

Question 21

Ostium (foramen) secundum defects

Answer 21

Patent foramen ovale due to short septum primum, short septum secundum, or both;

Question 22

Endocardial cushion (foramen primum) defect

Answer 22

Normal foramen ovale but patent foramen primum due to failure of septum primum to fuse with endocardial cushion

Question 23

Sinus Venosus Defect

Answer 23

In upper part of atrium due to incomplete absorption of sinus venosus and/or incomplete development of septum secundum

Question 24

VSD

Answer 24

Membranous type of VSD most common; Left to Right Shunt

Question 25

Transposition of Great Vessels

Answer 25

Right to Left Shunt; Faulty migration of neural crest cells results in absence of a spiral to the septum; cannot survive unless there is ASD, PDA, and/or VSD

Question 26

Tetralogy of Fallot

Answer 26

Right to Left Shunt; faulty development of aorticopulm septum; pulm stenosis is primary defect from asymmetrical division of truncus arteriosus; right ventricular hypertrophy from pulm stenosis; VSD and overriding aorta

Question 27

Persistent Truncus Arteriosus

Answer 27

Failure of migration of neural crest cells causes absence of aorticopulm septum; associated with VSD since membranous portion of IV septum requires bulbar ridges in order to develop; not a true right to left shunt but does cause cyanosis

Question 28

Right to Left Shunts examples?

Answer 28

Tetralogy of Fallot, Transposition of great vessels, persistent truncus arteriosus