SECTION III ANOMALIES

Question 1

usually left one is absent, commonly asymptomatic, failure of development of one ureteric bud?

Answer 1

unilateral renal agenesis

Question 2

incompatible with life, associated with oligohydramnios, caused by lack of ureteric buds to develop?

Answer 2

bilateral renal agenesis

Question 3

growth of one paramesonephric duct is retarded?

Answer 3

bicornuate uterus with rudimentary horn

Question 4

one paramesonephric duct fails to form, uterus with one uterine tube

Answer 4

unicornuate uterus

Question 5

hidden testes, testes begin to descend into scrotum by end of 2nd trimester, may be present abdominal cavity or anywhere along usual pathway of descent?

Answer 5

unilateral cryptochordism

Question 6

XY chromosome, testes present, failure of masculinization to occur is a result of resistance to testosterone at the cellular level in genital tubercle and labioscrotal and urethral folds?

normal appearing females, external genitalia are female, vagina ends in a blind pouch, uterus and uterine tubes are absent or rudimentary

Answer 6

androgen insensitivity syndrome

Question 7

T/F, congenital heart defect is relatively common?

Answer 7

true

Question 8

osmium secundum, endocardial cushion defect with osmium primum defect, sinus venosus defect, common atrium are what types of CHDs?

Answer 8

atrial septal defect

Question 9

this ASD occurs in the area of the oval fossa, includes defects of septum primum and septum secundum, well tolerated in childhood, leads to pulmonary hypertension, common?

Answer 9

ostium secundum

Question 10

this ASD is due to the abnormal resorption of the septum primum during formation of the foramen secundum, fenestrated/net like septum primum because of abnormal location, excessive resorption, abnormally large foramen ovale

Answer 10

patent foramen ovale

Question 11

this ASD can be seen in the adult as a large patent foramen ovale, arrow passes through the large atrial septal defect, results of an abnormally large foramen ovale and excessive resorption of the septum primum?

Answer 11

secundum-type ASD

Question 12

this ASD has a patent foramen primum ostium primum defect which does not fuse with the endocardial cushions, AV septal defect

Answer 12

endocardial cushion defects with ostium primum ASD

Question 13

this ASD type is rare, located in the superior part of the interatrial septum near entry of SVC, caused by incomplete absorption of the sinus venosus into the right atrium and /or abnormal development of the septum secundum?

Answer 13

sinus venosus ASD

Question 14

this ASD is rare, interatrial septum is absent, failure of septum primum and septum secundum to develop?

Answer 14

common atrium

Question 15

this type of CHD accounts for 25% of the heart defects, more common in males than females, occurs in any part of the inter ventricular septum, membranous VSD is most common type, 30-50% of VSDs close spontaneously

Answer 15

ventricular septal defect

Question 16

this type of VSD is due to the failure of the endocardial cushion to grow and fuse with the aorticopulmonary septum and the inter ventricular septum, results in dyspnea and cardiac failure in early infancy?

Answer 16

incomplete closure of the interventricular foramen (VSD)

Question 17

this type of VSD is less common, appears anywhere in the muscular part of the inter ventricular septum, swiss cheese like with many small defects

Answer 17

muscular VSD

Question 18

this VSD results in a 3 chambered heart, failure of the interventricular septum to form, very rare, transposition of great arteries, CHF occurs during infancy?

Answer 18

absence of interventricular septum

Question 19

this VSD is the common cause of cyanotic heart disease in neonates, associated with other defects like ASD and VSD, aorta lies anterior to the right of the pulmonary trunk (arises from the morphological left ventricle)

Answer 19

transposition of great arteries

Question 20

this CHD is when the edges of the valves are fused to formed a dome with a narrow opening?

Answer 20

stenosis, leads to hypertrophy of the left ventricle with abnormal heart sounds like a murmer

Question 21

this CHD is due to complete obstruction of aorta?

Answer 21

atresia, leads to hypertrophy of the left ventricle with abnormal heart sounds like a murmer

Question 22

name this CHD:

pulmonary artery stenosis, VSD, dextroposition of the aorta, right ventricular hypertrophy, results when division of truncus arteriosus is unequal, pulmonary trunk is stenotic

Answer 22

tetralogy of fallout

Question 23

this spina bifida type is asymptomatic, evidence can be a small dimple with a tuft of hair rising from it?

Answer 23

spina bifida occulta

Question 24

this spina bifida cystica is comprised of a cyst with meninges and CSF, range of symptoms from minor to complete paralysis?

Answer 24

spina bifida with meningocele

Question 25

this spina bifida cystica has a spinal cord or nerve roots contained within meningeal cyst, failure of closure of caudal neuropore?

Answer 25

spina bifida with meningomyelocele

Question 26

this is the most severe form of spina bifida, neural folds and overlying skin fails to fuse, spinal cord is open in affected area, permanent paralysis or weakness of lower limbs, with or without clubfoot

Answer 26

myeloschisis

Question 27

this is a neurodevelopment disorder, calvaria and brain are small, face is normal size, reduction neurogenesis, ionizing radiation, zika, toxoplasma causes, what is this neurodisorder?

Answer 27

microencephaly

Question 28

this neurodevelopment disorder is due to the failure of rostral neuropore to close, defect fo calvaria and brain, most fo brain exposed, remaining brain degenerates, associated with acrania, associated with polyhydramnios?

Answer 28

meroencephaly

Question 29

this neurodevelopment is due to the enlargement of the head, imbalance between production and resorption of CSF, excess CSF in ventricular system, obstruction of apertures, congenital aqueduct stenosis?

Answer 29

hydrocephalus

Question 30

incomplete closure of the retinal fissure?

Answer 30

coloboma

Question 31

localized gap in the retina, inferior to optic disc and results in certain vision loss?

Answer 31

retinochoroidal coloboma

Question 32

defect in the inferior sector of the iris or notch in pupillary margin? gives the iris a keyhole appearance and does not result in vision loss

Answer 32

coloboma of the iris

Question 33

eye condition with abnormal development of drainage mechanism of aqueous humor, increased intraocular pressure, optic nerve damage, enlarge eyes, cloudy cornea, photosensitivity

Answer 33

congenital glaucoma

Question 34

lens is opaque and appears grayish white

Answer 34

congenital cataract

Question 35

inner and outer layers of optic cup fail to fuse, separation of neural and pigment layers of retina, occurs with down syndrome and marfan syndrome

Answer 35

congenital detachment of the retina

Question 36

heterogenous group of eye defect, small eyeball, eye development arrested before or after otic vesicle formation, can occur with cataracts, facial cleft, trisomy 13, etc...

Answer 36

microphthalmos

Question 37

failure of the optic vesicle to form and with without an eyeball, eyelids form, associated with craniofacial defects, secondary failure is the forebrain underdevelopment?

Answer 37

anonphthalmos

Question 38

eyes are partially or completely fused? tubular nose, defective forebrain development, life unsustainable

Answer 38

cyclopia

Question 39

this is an eye condition in which there is a lack of iris tissue, almost complete absence of iris, development arrested at rim of optic cup during 8th week, associated with glaucoma, cataracts and other eye abnormalities?

Answer 39

congenital aniridia

Question 40

ear is unable to convert vibratory energy of sound into electrical energy of nerve impulses, conductive hearing loss:outer or middle ear affected, sensorineural: inner ear, auditory nerve, central auditory pathway affected, mixed hearing loss, multifactorial causes

Answer 40

congenital deafness

Question 41

example of auricular appendage?

Answer 41

skin tag

Question 42

absence of auricle, associated with first pharyngeal arch syndrome?

Answer 42

anotia

Question 43

this is a small auricle, results from suppressed mesenchymal proliferation

Answer 43

microtia

Question 44

failure of meatul plug to canalize, abnormal development of first and second pharyngeal arches?

Answer 44

atresia of external acoustic meatus

Question 45

failure of inward expansion of first pharyngeal groove and failure of meatal plug to disappear?

Answer 45

absence of external acoustic meatus