Developmental Disease Flashcards
Sacrcoccygeal teratoma
Primitive streak (remnants); Prognosis good after surgery
Ectopia cordis
Defect in lateral folding; Prognosis not good
Chordoma
Notochord (remnants); malignant invades bone and can be in base of skull or lumbosacral region
Gastroschisis
Defect in Lateral folding; Intestine herniates outside ab; Prognosis good after surgery
Spina bifida cystica occulta
Malformation of vertebral arch. Fluid filled subarachnoid space; Tuft of hair; no bulge over defect; no neuro Sx
Spina bifida cystica with meningocoele
malformation of vertebral arch; no neuro Sx; bulge over defect, contains meninges/CSF;
Spina bifida cystica with meningomyelocoele
malformation of vertebral arch; Possible neuro problems; Bulge over defect; contains meninges, cord, nerve roots
Spina bifida with myeloschisis
Failure of caudal neuropore to close; Open cord is mass of neural tissue on surface
Tracheoesophageal fistula (TEF)
Abnormal opening b/w trach. & esoph; Esophageal atresia; Coughing, choking when swallowing fluid; polyhydramnios
Resp. Distress Syndrome (RDS)
Surfactant deficiency (Type II pneumocytes)
Oligohydramnios
Insufficient amniotic fluid; Poor lung development
Polyhydramnios
Excess amniotic fluid; Occurs in meroanencephaly, multiple preg, diabetes mellitus & esophageal fistula
Congenital diaphragmatic hernia
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
Retrosternal/parasternal hernia
Diaphragmatic defect; Gut herniate into pericardial sac
Eventration of diaphragm
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
Hydatiform mole (H-mole)
no or little embyronic tissue present; trophoblast develops well; hCG produced; may give rise to choriocarcinoma
Placenta Previa
Ectopic pregnancy in internal os resulting in severe bleeding in late stage of pregnancy
Probe patency
Failure of anatomical closure results in functional closure only so a probe may be passed through oval foramen
ASD
Left to Right shunt (Acyanotic); pushes oxygenaetd blood to pulm circulation; ostium (foramen) secundum defect most common
Common atrium (cor trilocolare)
Absence of interatrial septum due to failure of septum primum and septum secundum to develop
Ostium (foramen) secundum defects
Patent foramen ovale due to short septum primum, short septum secundum, or both;
Endocardial cushion (foramen primum) defect
Normal foramen ovale but patent foramen primum due to failure of septum primum to fuse with endocardial cushion
Sinus Venosus Defect
In upper part of atrium due to incomplete absorption of sinus venosus and/or incomplete development of septum secundum
VSD
Membranous type of VSD most common; Left to Right Shunt
Transposition of Great Vessels
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
Tetralogy of Fallot
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
Persistent Truncus Arteriosus
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
Right to Left Shunts examples?
Tetralogy of Fallot, Transposition of great vessels, persistent truncus arteriosus
