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70 Cards in this Set

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  • Back
what does a sacrococcygeal teratoma arise from? what is it?
tumor that arises from remnants of the primitive streak (which normally disappears); more common in female infants; usually becomes malignant during infancy and must be removed before 6 mos.
what is a chordoma?
tumor that arises from remnants of notochord - may be found intracranially or in sacral region; usually occurs in men late in life
what is caudal dysplasia and what causes it?
constellation of syndromes ranging from minor lesions of vertebrae to complete fusion of lower limbs - caused by abnormal gastrulation
what causes tetralogy of fallot?
abnormal neural crest cell migration such that there is skewed development of the AP septum
list the four classic malformations associated with tetralogy of fallot
pulmonary stenosis, overriding aorta, VSD, RVH
what is the most common clinically significant ASD?
foramen secundum defect - caused by excessive resorption of septum primum, septum secundum, or both
what is the most common type of VSD?
membranous VSD
what is the cause of a membranous VSD?
faulty fusion of the right bulbar ridge, left bulbar ridge, and AV cushions
postductal coartctation of the aorta is commonly associated with what syndrome?
turner's syndrome (XO)
which crosses the placenta: IgM or IgG?
AFP is elevated in what type of defects?
neural tube - spina bifida, anencephaly
what is the cause of spina bifida occulta and how common is it?
defect in the vertebral arches (least severe variation; tuft of hair); occurs in 10% of the population
what causes spina bifida with meningocele?
occurs when the meninges project through a vertebral defect, forming a sac filled with CSF
what is a meningomyelocele?
meninges and spinal cord project through a vertebral defect, forming a sac
what is the most severe type of spina bifida?
spina bifida with myeloschisis - open neural tube that lies on surface of back
what is the result when the anterior neuropore fails to close?
anencephaly - most common defect seen in stillborn fetuses
what is an arnold-chiari malformation?
cerebellomedullary malformation in which caudal cerebellar vermis and tonsils and medulla herniate through the foramen magnum
why does arnold-chiari malformation result in hydrocephalus?
because the outlet foramina of the fourth ventricle are obliterated (obstructive hydrocephalus)
arnold-chiari malformation is commonly associated with what other defects?
lumbar meningomyelocele, platybasia, aqueductal stenosis
congenital deafness is associated with in utero exposure to what virus?
name five causes of congenital cataracts
rubella, toxoplasmosis, congenital syphilis, down syndrome, galactosemia (inborn metabolic error)
what is associated with polyhydraminos and tracheoesophageal fistula?
esophageal atresia
annular pancreas is associated clinically with what shortly after birth?
obstruction of duodenum
when does an accesory pancreatic duct develop?
when the proximal part of the dorsal bud duct persists and enters the duodenum at its own site
what happens when fetal islets are exposed to high blood glucose levels?
accelerated development of pancreatic islets; associated with increased birth weight
how does an omphalocele present in a newborn?
a light gray, shiny sac protruding from the base of the umbilical cord
when does an omphalocele occur?
when the intestines (midgut loop) fail to return to the abdominal cavity
meckel's diverticulum occurs when a remnant of what persists?
vitelline duct
what occurs when the vitelline duct remains open
vitelline fistula - may present with fecal discharge at the umbilicus
what is gastroschisis and when does it occur?
protrusion of the viscera - occurs when there is a defect in the ventral abdominal wall
what is malrotation of the midgut associated with clinically?
where is the appendix normally located in relation to the cecum and where is it located when it is retrocecal or retrocolic?
normally found on the medial side of the cecum; retrocecal/colic - located on posterior side of cecum or colon
during the canalicular period of lung development (wks 3-15), what develops?
respiratory bronchioles and terminal sacs (primitive alveoli); premature infants born at less than 20 wks gestation rarely survive
when does differentiation of type I and type II pneumocytes begin?
week 24; premature fetuses born b/w wk 25-28 can survive w/ intensive care - earliest period at which fetuses can survive
name two defects that pulmonary hypoplasia can be found in association with
congenital diaphragmatic hernia and bilateral renal agenesis
when does a pharyngeal fistula occur and where is it generally located?
occurs when pharyngeal pouch 2 and pharyngeal groove 2 persist - forms patent opening from the internal tonsillar area to the external neck; found along the anterior border of the SCM
what causes first arch syndrome?
lack of migration of neural crest cells into branchial arch 1 (treacher collins, pierre robin)
what happens when the ureteric bud fails to develop?
renal agenesis
what is the result of bilateral renal agenesis?
potter syndrome - oligohydraminos allows uterine wall to compress fetus: deformed limbs, wrinkly skin, abnormal facial appearance
why is normal ascent of the kidneys arrested with horseshoe kidney?
the fused portion gets trapped behind the IMA
when does duplication of the urinary tract occur?
when the ureteric bud prematurely divides before penetrating the metanephric mesoderm
what other malformation is associated with exstrophy of the bladder?
cyst found along the midline on a path from the umbilicus to the apex of the urinary bladder
urachyl cyst - remnant of allantois persists
of what origin are the primitive neuroblasts found in neuroblastoma?
neural crest
name the three classic areas described in wilms' tumor
stromal area, tightly-packed embryonic cells, small tubules
what causes hypospadias?
urethral folds fail to fuse completely, resulting in the external urethral orifice opening onto the ventral surface of the penis
what is the defect in osteogenesis imperfecta?
type I collagen
what protein is defective in marfan's?
chances of achondroplasia increase with what?
increasing paternal age
unusually flat abdomen, breathlessness, and cyanosis in a newborn may be signs of what?
congenital diaphragmatic hernia
on which side is a congenital diaphragmatic hernia most commonly found, and what causes it?
left posterolateral side; caused by failure of pleuroperitoneal membrane to develop
an infant who vomits when laid on its back may have what?
esophageal hiatal hernia - renders esophagogastric sphincter incompetent so that stomach contents reflux into esophagus
deletion in the short arm of chromosome 5 results in what?
cri du chat syndrome
deficits such as MR, microcephaly, heart defects, and cat-like cry are characteristic of what?
cri du chat syndrome
what is the chromosomal abdnormality associated with Prader-Willi syndrome?
deletion of band q12 on chromosome 15 (found in the father)
MR, hyperphagia, and hypogonadism are characteristics of what congenital syndrome?
what is the chromosomal abdnormality associated with angelman syndrome
deletion of band q12 on chromosome 15 (found in the mother)
what are characteristics of angelman syndrome?
severe MR, seizures, dystaxia
the triad of heart defects, cataracts, and deafness are associated with what viral agent?
MR, microcephaly, cerebral calcifications, blindness and chorioretinitis, and hepatosplenomegaly are associated with what fetal infection?
MR, hydrocephalus, microcephaly, microphthalmia, chorioretinitis, and intracranial calcifications are associated with what nonviral infection?
name some characteristics of congenital syphilis
MR, hydrocephalus, deafness, corneal opacity and blindness, abnormal teeth (Hutchinson) and bones
when given to pregnant women, what types of abnormalities can lithium cause in the fetus?
congenital anomalies of the heart and great vessels
MR, microcephaly, craniofacial defects, and nail and digital hypoplasia can result from in utero exposure to what anticonvulsant?
phenytoin (dilantin)
digeorge's syndrome, cardiac malformations, and hirschprung's all result from failure of migration of what type of cells?
neural crest cells
infant who becomes cyanotic while crying may have what?
persistent truncus arteriosus
what does a persistent truncus arteriosus result from?
failure of aorticopulmonary system to form
annular pancreas results from what abnormality?
rotation of the ventral pancreatic bud around the second part of the duodenum
the alar plate forms what part of the spinal cord?
dorsal - becomes sensory/afferent
the basal plate forms what part of the spinal cord?
ventral - becomes motor