DMS 223 wk 4

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The term campomelic, comes from the Greek word for

"bent limb"

During fetal development, around ____, the fetal kidneys begin to produce urine.

12 weeks

The fetal bladder can be seen as early as_____and should always be seen by 15 weeks.

13 weeks

The kidneys can be sonographically identified as early as

15 menstrual weeks

The urinary bladder normally fills and empties once every

30 to 60 minutes

Pelviectasis/Pyelecstasis (dilated pelvis):

6-9 mm, common more on the right side; needs monitoring / follow-up; mild dilatation has been seen in Down syndrome fetuses

The testicles move down into the scrotum during the

7th month of gestation

The fetal kidneys develop within the pelvis and ascend into their normal position by

9th week.

US of PRUNE BELLY SYNDROME

Abnormal compression of abdominal wall, Oligohydramnios, Hydronephrosis, Large bladder

what is combined male and female sexual organs

Ambiguous genitalia

PRUNE BELLY SYNDROME/ Eagle-Barrett syndrome

Anterior abdominal wall: musculatureis deficient or absent--hypotonic, Urinary tract anomalies: mega-ureters, large bladder (megacystis), PUV, Bilateral cryptorchidism (undescended testicles)

CLASSIC POTTER / TRUE POTTER SYNDROME

Bilateral kidney agenesis, oligohydramnios, no bladder

US appearance of IPKD

Bilateral large homogeneous echogenic kidneys, Usually bladder is small or unable to see, Oligohydramnios, pulmonary hypoplasia,

what is seen with THANATOPHORIC DYSPLASIA

Bowed long bones—telephone receiver, Narrow thorax with protruding abdomen;bell-shaped chest, Extreme micromelia, polyhydramnios

CAMPOMELIC DYSPLASIA CHARACTERISTICS

Bowing of the long bones with the lower extremities affected most severely, Talipes/clubfoot, narrow chest,

OSTEOGENESIS IMPERFECTA

Commonly known as brittle bone disease, is a group of disorders that results in multiple fracturesthat can occur in utero.

US appearance of UPJ

Dilated renal pelvis, w/o dilated ureters, Thin cortex, the ureter, bladder, and amniotic fluid are usually normal

INFANTILE POLYCYSTIC KIDNEY DISEASE (IPKD)/potter type I

Disease due to multiple/numerous small cysts of 1-2 mm in tubules, collecting ducts

PRUNE BELLY SYNDROME treatment

Early surgery to fix weak abd muscles, urinary tract problems, undescended testicles

US of MDKD

Enlarged kidney with multiple cysts of variable sized cysts, usually unilateral

TESTICULAR HYDROCELE

Excessive accumulation of fluid in the tunica vaginalis

TESTICULAR HYDROCELE US appearance

Fluid surrounds testicle

with____ a small amount of urine may be seen in the renal pelvis in the normal fetus, measuring in its AP diameter less than 5 mm.

HYDRONEPHROSIS

JEUNE SYNDROME/ Asphyxiating Thoracic Dysplasia

Have rib cages that are smaller& narrower than usual

what is THANATOPHORIC DYSPLASIA associated with

Horseshoe kidney, atrial septal defect, Imperforated anus, hypertelorism, polyhydramnios

US appearance of PUV

Hydronephrosis, Enlarged posterior urethra, Dilated bladder, keyhole appearance

CAMPOMELIC DYSPLASIA

Is a congenital disorder characterized by development of abnormal curvature of long bones, particularly from lower extremities

OBSTRUCTIVE CYSTIC DYSPLASIA/potter type IV

Is a potential complication that can occur from prolonged obstruction of the bladder outlet or urethra during gestation.

ACHONDROGENESIS

Is a rare type of growth hormone deficiency in which there is a defect in the development of bone & cartilage

BLADDER EXSTROPHY

Is an anomaly wherein the bladder is located on the outside of the pelvis.

HYDRONEPHROSIS

Is the most common renal abnormality in an unborn fetus

US appearance of ACHONDROGENESIS

Lack of vertebral ossification, Severe pulmonary hypoplasia, Severely shortened-limbs (micromelia), Micrognathia, Macrocephaly, A protuberant (protruding/bulging) abdomen

what is the most common cause of palpable abdominal mass in infants, common in males and is usually unilateral

MDKD

One condition associated with IPKD is

Meckel-Gruber syndrome

US appearance of UVJ

Mega ureter, hydronephrosis, ureterocele, ectopic ureter

MULTICYSTIC DYSPLASTIC KIDNEY DISEASE (MDKD)/ potters type II

Most common type of cystic renal dysplasia

OSTEOGENESIS IMPERFECTA US appearance

Multiple fractures of long bones, ribs & spine, Narrow thorax, Micromelia

Achondrogenesis is derived from Greek and means

NOT producing cartilage."

what is an inherited rare disorder and has an abnormal fragility of the bones due to hypomineralization of entire skeleton

OSTEOGENESIS IMPERFECTA

UVJ (URETEROVESICAL JUNCTION) OBSTRUCTION

Obstruction at level of distal ureter where it inserts into the bladder

UPJ (URETEROPELVIC JUNCTION) OBSTRUCTION

Obstruction occurs at the junction between renal pelvis & ureter

THANATOPHORIC DYSPLASIA

One of the more common forms of lethal short-limbed dwarfism seen

what is a distended fetal abdomen with wrinkled appearanc, common in males

PRUNE BELLY SYNDROME

OSTEOGENESIS IMPERFECTA type II

Results in multiple fractures in utero, skull demineralization, bell-shaped chest, and decreased fetal movement.

JEUNE SYNDROME characterized by

Small thorax, renal dysplasia, Oligohydramnios, Varying degrees of rhizomelia, Polydactyly

what is mostly benign and tends to resolve in first 9 months of life

TESTICULAR HYDROCELE

what has a cloverleaf skull with frontal bossing and hydrocephalus

THANATOPHORIC DYSPLASIA

The four most common skeletal dysplasia's have been listed as

Thanatophoric dysplasia, Achondrogenesis, Osteogenesis imperfecta, Achondroplasia

Ovarian Cyst

This mass often appears as multiseptated and bilateral

renal agenesis is more common in males T/F

True

what is the most common level of obstruction and is usually unilateral

UPJ (URETEROPELVIC JUNCTION) OBSTRUCTION

what is the least common cause of hydronephrosis

UVJ obstruction

UVJ occurs because

Ureterocele, Congenital obstruction, Ureterovesical junction stenosis, An ectopic ureter

OBSTRUCTIVE CYSTIC DYSPLASIA is associated with

VACTERL, chromosomal anomalies, Trisomies 13 & 18, Meckel Gruber, Von Hippel-Lindau, Tuberous sclerosis

characteristics of ACHONDROGENESIS

Very short trunk, arms, and legs, Head appears large in relation to the trunk, Narrow thorax & pulmonary hypoplasia,

US appearance of renal agenesis

When the kidney is absent in the abdomen, the adrenal gland can be noted in a parallel, flattened position, a sonographic finding known as the "lying down" adrenal sign.

PUV (POSTERIOR URETHRAL VALUE) OBSTRUCTION

Which occur only in males, consist of mucosal folds that can obstruct urethra, Most severe obstruction

A renal pelvis diameter, measured in an AP direction in a transverse plane that exceeds 10 mmis considered to be

abnormal

Hydrometrocolpos

abnormal fluid in the vagina and uterus

Skeletal dysplasia is the term used to describe

abnormal growth and density of cartilage and bone

Phocomelia

absent middle portion of the limb (hands & feet attached to trunk)

Hydrometrocolpos on US appears

as a hypoechoic "cyst like" mass posterior to the bladder in the area of the uterus

In the presence of unilateral renal agenesis, the contralateral kidney will enlarge, a condition known as

compensatory hypertrophy

Thanatophoric means ____ in greek

death producing

Acromelia

distal extremity shortening (phalanges, metacarpals)

The most common renal anomaly is the

duplex collecting system, also referred to as a duplicated or double collecting system.

MDKD is thought to be caused by an

early first trimester obstruction of ureter

Clitoromegaly

enlargement of the clitoris; most common fetal female genital abnormality

_____ may be decreased in lethal forms of dysplasia

fetal activity

The most common abnormal finding on a prenatal ultrasound is

genitourinary abnormality.

______ are kidneys that are attached at their lower poles.

horse shoe kidneys

what is an autosomal recessive polycystic disease, is congenital and fatal soon after birth

infantile polycystic kidney disease (IPKD)

Ambiguous genitalia

is a birth defect in which the sex of the fetus cannot be determined

Hermaphroditism

is a condition in which both ovarian and testicular tissues are present

Meckel-Gruber syndrome

is a fatal disorder that is associated with renal cystic disease, occipital cephalocele, pulmonary hypoplasia, and polydactyly.

By the 10th week of gestation, fully functional _____ exist

kidneys

Pulmonary hypoplasia the most common cause of death in

lethal skeletal dysplasia

The sonographic finding of bladder exstrophy is that of a

lower abdominal wall mass inferior to the umbilicus

____ is linked with fetal skeletal dysplasia

maternal dysplasia

The ovarian mass results from

maternal hormonal stimulation and is usually benign

Findings of abnormal external genitalia in the maleare

micropenis, and undescended testicles

Mesomelia

middle limb segment shortening (radius, ulna, tibia, fibula

is potter syndrome compatible with life

no

with MDKD the affected kidney is

nonfuctional

Renal abnormalities are the most frequent cause of

oligohydramnios

if a normal amount of fluid is noted during a sonogram, one can assume that there is at least

one functioning fetal kidney present

visualization of the ureters would indicate some

pathological process

The most worrisome consequence of oligohydramnios is

pulmonary hypoplasia

Bilateral disease often leads to oligohydramnios, and thus is related to a poor outcome in most cases due to

pulmonary hypoplasia..

Failure of a kidney to form is referred to as

renal agenesis

what leads to potters syndrome and is not compatible with life

renal agenesis

When there is absence of the kidney, there will be NO identifiable

renal artery branches

with skeletal dysplasia the bones may be

shortened, deformed, thin, or absent

Micromelia

shortening of entire extremity

Rhizomelia

shortening of proximal extremity (humerus, femur)

CLASSIC POTTER / TRUE POTTER SYNDROME is associated with

single umbilical artery, facial, limb anomalies, and pulmonary hypoplasia

US appearance of OBSTRUCTIVE CYSTIC DYSPLASIA

small & echogenic kidneys with cortical periphery cysts (in chronic cases), usually bilateral; obstruction

The gonads develop in the upper fetal abdomen and descend into

the pelvis

The adrenal glands are

triangular-shaped hypoechoic structures located superior to the upper pole of the kidneys.

whats a distinctive finding of OSTEOGENESIS IMPERFECTA type II

when transducer pressure is applied to the skull, the shape of the "soft" skull can be distorted.


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