SECTION III ANOMALIES Flashcards
usually left one is absent, commonly asymptomatic, failure of development of one ureteric bud?
unilateral renal agenesis
incompatible with life, associated with oligohydramnios, caused by lack of ureteric buds to develop?
bilateral renal agenesis
growth of one paramesonephric duct is retarded?
bicornuate uterus with rudimentary horn
one paramesonephric duct fails to form, uterus with one uterine tube
unicornuate uterus
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?
unilateral cryptochordism
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
androgen insensitivity syndrome
T/F, congenital heart defect is relatively common?
true
osmium secundum, endocardial cushion defect with osmium primum defect, sinus venosus defect, common atrium are what types of CHDs?
atrial septal defect
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?
ostium secundum
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
patent foramen ovale
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?
secundum-type ASD
this ASD has a patent foramen primum ostium primum defect which does not fuse with the endocardial cushions, AV septal defect
endocardial cushion defects with ostium primum ASD
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?
sinus venosus ASD
this ASD is rare, interatrial septum is absent, failure of septum primum and septum secundum to develop?
common atrium
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
ventricular septal defect
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?
incomplete closure of the interventricular foramen (VSD)
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
muscular VSD
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?
absence of interventricular septum
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)
transposition of great arteries
this CHD is when the edges of the valves are fused to formed a dome with a narrow opening?
stenosis, leads to hypertrophy of the left ventricle with abnormal heart sounds like a murmer
this CHD is due to complete obstruction of aorta?
atresia, leads to hypertrophy of the left ventricle with abnormal heart sounds like a murmer
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
tetralogy of fallout
this spina bifida type is asymptomatic, evidence can be a small dimple with a tuft of hair rising from it?
spina bifida occulta
this spina bifida cystica is comprised of a cyst with meninges and CSF, range of symptoms from minor to complete paralysis?
spina bifida with meningocele
this spina bifida cystica has a spinal cord or nerve roots contained within meningeal cyst, failure of closure of caudal neuropore?
spina bifida with meningomyelocele
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
myeloschisis
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?
microencephaly
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?
meroencephaly
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?
hydrocephalus
incomplete closure of the retinal fissure?
coloboma
localized gap in the retina, inferior to optic disc and results in certain vision loss?
retinochoroidal coloboma
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
coloboma of the iris
eye condition with abnormal development of drainage mechanism of aqueous humor, increased intraocular pressure, optic nerve damage, enlarge eyes, cloudy cornea, photosensitivity
congenital glaucoma
lens is opaque and appears grayish white
congenital cataract
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
congenital detachment of the retina
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…
microphthalmos
failure of the optic vesicle to form and with without an eyeball, eyelids form, associated with craniofacial defects, secondary failure is the forebrain underdevelopment?
anonphthalmos
eyes are partially or completely fused? tubular nose, defective forebrain development, life unsustainable
cyclopia
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?
congenital aniridia
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
congenital deafness
example of auricular appendage?
skin tag
absence of auricle, associated with first pharyngeal arch syndrome?
anotia
this is a small auricle, results from suppressed mesenchymal proliferation
microtia
failure of meatul plug to canalize, abnormal development of first and second pharyngeal arches?
atresia of external acoustic meatus
failure of inward expansion of first pharyngeal groove and failure of meatal plug to disappear?
absence of external acoustic meatus
