DMS 223 OB week 4

Achondroplasia is characterized by:

1. Abnormal bone growth that results in short stature with disproportionately short arms and legs 2. A large head, 3. Characteristic facial features with frontal bossing

The triad findings in prune-belly syndrome are:

1. Absent abdominal musculature 2. Undescended testis and urinary tract abnormalities (enlargement of the bladder, ureter, and the renal collecting system)

U/S appearance of IPCK (infantile autosomal recessive polycystic disease) is:

1. Bilateral large homogenous echogenic kidneys (loss of corticomedullary differentiation) 2. Usually bladder is small 3. Oligohydramnios 4. Pulmonary hypoplasia w/ bell shaped thorax

U/S appearance of thanatophoric dysplasia is:

1. Cloverleaf skull with frontal bossing and hydrocephalus. 2. Extreme micromyelia (especially of the proximal bones (rhizomelia) 3. Bowed long bones ("telephone receiver") 4. Narrow thorax with protruding abdomen (bell- shaped chest)

U/S appearance of achondroplasia includes:

1. Frontal bossing 2. Macrocephaly 3. A depressed nasal bridge 4. Rhizomelia 5. Polyhydramnios

Thanatophoric dysplasia is associated with:

1. Horseshoe kidney 2. Atrial septal defect 3. Imperforated anus 4. Hypertelorism 5.Polyhydramnios

The ultrasound appearance of UVJ obstruction is:

1. Hydronephrosis 2. Dilated ureter

The ultrasound appearance of PUV (males) or urethral obstruction is:

1. Hydronephrosis 2. Dilated ureters 3. Distended bladder 4. Thickened bladder wall 5. Enlarged posterior urethra ("Keyhole appearance")

The ultrasound appearance of UPJ obstruction is:

1. Hydronephrosis 2. Ureters are normal

U/S appearance of achondrogenesis includes:

1. Lack of vertebral ossification 2. Severe pulmonary hypoplasia 3. Macrocephaly 4. Polyhydramnios 5. Severely shortened-limbs (micromelia)

U/S appearance of Potter type II is:

1. Multiple cysts of variable sized cysts 2. Usually unilateral 3. Oligohydramnios

U/S appearance of type II osteogenesis imperfecta is?

1. Multiple fractures in utero 2. Skull demineralization (recognized by a lack of posterior shadowing), 3. Bell-shaped chest 4. Decreased fetal movement. 5. When transducer pressure is applied to the skull, the shape of the "soft" skull can be distorted. 6. Micromelia

OEIS stands for:

1. Omphalocele 2. Exstrophy of the bladder and rectum 3. Imperforate anus 4. Spinal defects: spina bifida.

U/S appearance of Meckel-Gruber syndrome is:

1. Renal cystic disease (IPCKD) 2. Occipital cephalocele 3. Polydactyly. 4. Pulmonary hypoplasia

U/S appearance of renal agenesis is:

1. Severe oligohydramnios with bilateral agenesis 2. No kidney or bladder, or small bladder (normally the fetal kidney empty every 30 minutes - 1 hour) 3. If one renal fossa is empty, search for an ectopic kidney 4. The adrenal glands may be large & can mimic the kidneys 5. Absence of the kidney & renal artery branches

U/S appearance of Potter type IV is:

1. The fetal kidneys are small and echogenic with cortical periphery cyst (in chronic cases) 2. Obstruction (hydronephrosis)

What are the 4 types of osteogenesis imperfecta?

1. Type I --- mild form 2. Type II --- lethal 3. Type III --- severe condition 4. Type IV --- mild form

Obstruction (hydronephrosis) is diagnosed when the renal pelvis diameter measured in an AP exceeds:

10 mm

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

12

The fetal bladder can be seen as early as _____ weeks and should always be seen by _____ weeks.

13, 15

By _____ weeks, the kidneys should be consistently seen.

20

Achondroplasia is not evident until after _____ weeks of gestation.

22

The urinary bladder normally fills and empties once every _____ to _____ minutes.

30 to 60

Pelviectasis (renal pelvis fullness) is diagnosed when the fetal renal pelvis measures:

6-9 mm

Testicular hydrocele tends to resolve in first _____ months of life.

9

Normal AP (anteroposterior) measurement of the fetal renal pelvis is:

>5 mm.

_____ is the most common nonlethal skeletal dysplasia.

Achondroplasia

_____ is a birth defect in which the external genitalia of the fetus cannot be determined (outer genitals do not have the typical appearance of either a boy or a girl).

Ambiguous genitalia

MCDK disease is thought to be caused by:

An early, first trimester obstruction of the ureter

Jeune's syndrome is also known as:

Asphyxiating thoracic dysplasia

The term campomelic in Greek means:

Bent limb

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

Bladder exstrophy

In case of the cloacal exstrophy _____ and _____ are located outside of the lower abdominal wall

Both the bladder and distal colon

U/S feature of campomelic dysplasia is:

Bowing of the long bones especially the femur

Osteogenesis imperfecta is also called:

Brittle bone disease

The most common fetal female genital abnormality is:

Clitoromegaly

The _____ is the embryonic structure that develops into the rectum and urogenital sinus.

Cloaca

The U/S appearance of ureterocele is:

Cystic structure within the bladder

"Thanatophoric" means:

Death producing in Greek

A disorder characterized by hitchhikers thumb (abducted position of the thumb) and scoliosis is:

Diastrophic dysplasia

Define acromelia.

Distal extremity shortening (phalanges, metacarpals)

What is clitoromegaly?

Enlargement of the clitoris

In association with classic potter syndrome what abnormalities can be seen?

Facial and limb anomalies, pulmonary hypoplasia

Achondrogenesis is a non -lethal disorder. T/F?

False

Multicystic dysplastic kidney is common in females. T/F?

False

Ologohydramnios is linked with fetal skeletal dysplasias. T/F?

False

Renal abnormalities are the most frequent cause of polyhydramnios. T/F?

False

True or classic potter syndrome is compatible with life. T/F?

False

U/S is the number 1 modality for diagnosing skeletal dysplasia. T/F?

False

U/S appearance of testicular hydrocele is:

Fluid surrounds the entire testicle, small fluid is normal

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

Hermaphroditism

_____ is abnormal fluid in the vagina and uterus.

Hydrometrocolpos

Potter type I tile polycystic disease) is also called:

IPCK (infantile autosomal recessive polycystic disease)

The worry about the ovarian cyst is:

If the cyst is large it cause ovarian torsion

Horseshoe kidneys are kidneys that are attached at their _____ poles.

Lower

The sonographic finding of bladder exstrophy is:

Lower abdominal wall mass inferior to the umbilicus.

True or classic potter syndrome is common in females or males?

Males

Bilateral renal agenesis which leads to:

Marked oligohydramnios (true, classic) potter syndrome.

The ovarian cyst in the fetus is due to:

Maternal hormonal stimulation and is usually benign.

Potter type I is associated with _____ syndrome.

Meckel-Gruber

Define mesomelia.

Middle limb segment shortening (radius, ulna, tibia, fibula)

U/S appearance of hydrometrocolpos is:

Midline cystic like structure in the pelvis

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

Nine

Cloacal exstrophy is associated with _____ syndrome

OEIS

_____ is the most common renal abnormality in an unborn fetus.

Obstruction (hydronephrosis)

Potter type IV is also known as:

Obstructive cystic dysplasia

_____, which occurs only in males, consists of mucosal folds that can obstruct the urethra.

PUV

Phocomelia means:

Phoco (seal), melia (limb), limb like a seal's flipper

Multicystic dysplastic kidney is also called:

Potter type II

In the case of Roberts' syndrome which bones are missing or shortened?

Proximal and middle

The cause of death in case of infantile polycystic disease is?

Pulmonary hypoplasia w/ bell-shaped thorax

Failure of a kidney to form is referred to as:

Renal agenesis

A syndrome characterized by phocomelia is:

Roberts' syndrome

The testicles move down into the scrotum during the _____ month of gestation.

Seventh

Define micromelia.

Shortening of entire extremity

Define rhizomelia .

Shortening of proximal extremity (humerus, femur)

Abnormalities' of the skeletal system is called:

Skeletal dysplasia

_____ is the term used to describe abnormal growth and density of cartilage and bone

Skeletal dysplasia

_____ is excessive accumulation of fluid in the tunica vaginalis.

Testicular hydrocele

_____ is the more common forms of lethal short-limbed dwarfism.

Thanatophoric dysplasia

The most common renal anomaly is:

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

Define compensatory hypertrophy.

The enlargement of the contralateral kidney In the presence of unilateral renal agenesis.

Abnormal fragility of the bones due to hypomineralization of entire skeleton can be seen by U/S in osteogenesis imperfecta fetus. T/F?

True

If a normal amount of fluid is noted during a sonogram, one can assume that there is at least one functioning fetal kidney present. T/F?

True

In case of multicystic dysplastic kidney the affected kidney is nonfunctional. T/F?

True

In the case of Roberts' syndrome the upper extremities are more severely affected than the lower extremities. T/F?

True

Multicystic dysplastic kidney is mostly unilateral. T/F?

True

No pathologic significance of isolated hydrocele. T/F?

True

Potter type II is the most common cause of palpable abdominal mass in infants. T/F?

True

The adrenal glands are easily identified within the fetus. T/F?

True

The gonads develop in the upper fetal abdomen and descend into the pelvis. T/F?

True

The most worrisome consequence of oligohydramnios is pulmonary hypoplasia (underdevelopment of the lungs). T/F?

True

The thoracic and abdominal circumference will be remarkably dissimilar, leading to a bell-shaped chest in type II osteogenesis imperfecta. T/F?

True

Types I, III, and IV are typically diagnosed after birth. T/F?

True

Ureterocele can cause hydronephrosis. T/F?

True

Visualization of the ureters would indicate some pathologic process. T/F?

True

When there is absence of the kidney, there will be no identifiable renal artery branches. T/F?

True

The most common level of urine obstruction is:

UPJ obstruction.

The distal ureter balloons at its opening into the bladder, forming a sac-like pouch is_________.

Ureterocele

"Lying down" adrenal sign refers to:

When the kidney is absent in the abdomen, the adrenal gland can be noted in a parallel, flattened position