chapter 64 and 65 Flashcards
Amelia
Congenital absence of one or more extremities/limbs
Achieropodia:
symmetric absence of the hands and feet
Achondroplasia
most common nonlethal skeletal dysplasia. results from decreased endochondral bone formation, which produces short, squat bones.
Achondrogenesis
is a rare, lethal skeletal dysplasia. caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization.
Camptomelia
Bent bone dysplasia is a group of lethal skeletal dysplasias that are characterized by bowing of the long bones.
Clinodactyly-
bent or curved finger
Sirenomelia
Is a very rare anomaly in which there is fusion of the lower extremities. Male prevalence.
Exstrophy of the Bladder
protrusion of posterior wall of urinary bladder. Bladder is formed external to the abdominal wall.
Hydrometrocolops
Obstruction of the uterus and vagina resulting in collections of fluid
Hitchhiker thumb-
fixed abducted
Micromelia-
shortening of the entire extremity.
Osteogenesis Imperfecta
a rare disorder of collagen production leading to brittle bones; manifestations in the teeth, skin, and ligaments; and blue sclera
Pyelectasis-
dilation of the renal pelvis without dilation of the calyces
Polydactyly
many limbs; 6 fingers
Platyspondyly
Flat vertebral bodies
Rhizomelia-
Severe micromelia, especially of the proximal bones short limbs (long bones).
Phocomelia-
bones of the affected limb are either missing or underdeveloped. “Penguin like”
Talipes-
club foot
Urethral atresia
this condition causes a massively distended bladder (prune belly aka Eagle-Barrett syndrome)
VACTERL-
group of anomalies: vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb dysplasia
skeletal dysplasia ?
describes abnormal growth and density of cartilage and bone.
thanatos means
death personified; most lethal
what are some sonographic features for thanatophoric dysplasia?
severe micromelia cloverleaf deformation- premature craniosynostosis narrow thorax with shortened ribs hydrocephalus severe polyhydramnios
which is a common nonlethal skeletal dysplasia?
achondroplasia: inherited from 1 parent
achondroplasia is caused by ?
cartilage abnormalities that result in abnormal bone formation and hypomineralization.
osteogenesis imperfecta is a rare disorder of_____production leading to ____,____, ____?
colleagen production leading to:
brittle bones, blue sclera, and manifestation in teeth, skin, ligaments.
camptomelic dysplasia is known as____?
bent bone.
jeune’s syndrome is known as ___?
asphyxiating thoracic dysplasia.
which syndrome is increased frequency in Amish communities ?
Ellis-van Creveld syndrome AKA chondroectodermal dysplasia
between which weeks of gestation does the kidney become slightly hyperechoic compared to surrounding tissue?
18 to 20 weeks
The bladder wall thickness in a fetus is normally _____ mm.
2mm
fetal bladder usually takes ____ min. to fill and empty.
30 minuets
fetal bladder and kidneys are seen by ____ weeks of gestation .
13 weeks
Normal amniotic fluid volume cannot exclude renal agenesis before _____ weeks’ gestation.
14 to 16
name the abnormalities of the urinary tract
horseshoe kidney cake kidney obstruction double collecting system pelvic kidney polycystic disease
infant with bilateral renal agenesis exhibit____?
potters facies:
- flat nose
- recessed chin
- abnormal ears
- wide-set eyes
The most likely cause of bilateral hydronephrosis in the fetus is ____?
bladder outlet obstruction
The testes are not visible within the scrotal sac until approximately _____ weeks’ gestation.
28 weeks
When the fetal kidneys appear enlarged and echogenic, the sonographer should suspect ________ disease.
infantile polycystic disease
infantile polycystic kidney disease may occur as part of a genetic syndrome, such as meckel-gruber syndrome or _____.
trisomy 13
a fetal ovarian cyst has no diagnostic significance. true or false ?
false
The permanent kidneys arise from the _____.
metanephros
obstruction of uterus and vagina result in collection of fluid. referred to ?
hydrometrocolpos
most common renal tumor is____?
mesoblastic nephroma (harmartoma)
A dilated bladder with a “keyhole” appearance is most likely _____?
posterior urethral valve obstruction
what is the most common urethral anomaly?
posterior urethral valve obstruction
