OB 2 FINAL (PP) Flashcards
(279 cards)
1
Q
What is Menarche?
A
Onset of menstruation
2
Q
What is Menopause?
A
Stop of menstruation
3
Q
What is Metrorrhea?
A
irregular bleeding
4
Q
What days does menstruation occur in the cycle?
A
1-4 days
5
Q
What is the sonographic appearance of the endometrial canal during menstruation?
A
hypoechoic line
6
Q
What is a corpus luteum?
A
small endocrine structure that develops in a ruptured ovarian follicle.
7
Q
What hormones does a corpus luteum secrete?
A
progesterone and estrogen
8
Q
What is the broad ligament?
A
double fold of peritoneum that covers the uterus, ovaries and fallopian tubes
9
Q
what are the round ligaments?
A
Between layers of broad ligament In front and below fallopian tubes
10
Q
What are the cardinal ligaments?
A
cervix support with uterosacral
continuation of the broad ligaments that extend across the pelvic floor laterally
11
Q
Where is the Posterior Cul-de-sac?
A
between the uterus and rectum
12
Q
What are other names for the posterior cul-de-sac?
A
pouch of douglas
rectouterine pouch
13
Q
Where is the anterior cul-de-sac?
A
between the bladder and uterus
14
Q
what is another name for the anterior cul-de-sac?
A
vesicouterine pouch
15
Q
what is the blood supply to the vagina?
A
anterior uterine artery
posterior branch of internal iliac
16
Q
where is the space of retzius?
A
Between the anterior bladder wall and pubic symphysis
17
Q
what is another name for the space of retzius?
A
retropubic space
18
Q
what is the blood supply to the ovaries?
A
aorta
ovarian arteries
uterine arteries
19
Q
what do the ovarian veins drain into?
A
left vein: drains into left renal vein
right vein: drains into IVC
20
Q
what is the blood supply to the fallopian tubes?
A
ovarian arteries and veins
21
Q
where are arcuate vessels found?
A
along the peripheral edge of the uterus
22
Q
what is the embryology of the uterus and vagina?
A
they both develop from the mullerian ducts between 7-12weeks
23
Q
what are the 3 layers of the uterus?
A
perimetrium
myometrium
endometrium
24
Q
what are the 2 layers of the endometrium?
A
zona functionalis (superficial functional layer) zona basalis (deep basil layer)
25
what is the songraphic appererance of the endometrium?
echogenic to hypoechoic, depending on cycle
26
What layer sheds during menses?
zona functionalis
27
What is the size of ovaries?
3x2x2
28
What supports the ovary posteriorly?
broad ligament via mesovarium
29
what is the sonographic appearance of the ovary?
homogeneous, with an echogenic medulla
30
what supports the ovary medially?
ovarian ligament
31
what supports the ovary laterally?
suspensory ligament (infundibulopelvic)
32
what is ovarian torsion?
complete or partial rotation of the ovary, cutting off the blood supply
33
what day does ovulation occur?
day 14
34
what is the menstrual cycle?
menstraution = 1-4days
proliferative phase = 5-14 days
secretory phase = 15-28 days
35
what is the ovarian cycle?
follicular phase = 1-14 days
| luteal phase = 15-28 days
36
what is the size of a graafian follicle?
2cm
37
what is the rate of growth of a graafian follicle?
2-3mm per day
38
what is the length of the fallopian tubes?
10-12cm
39
what are the sections of the fallopain tube?
infundibulum
ampulla
isthums
inerstitial portion
40
what section of the fallopian tube is the widest?
ampulla
41
what are cysts in the cervix called?
nabothian cysts
42
what are cysts in the vagina called?
gartners duct cysts
43
what are the most common tumors of the uterus?
fibroids (leiomyomas)
44
where can fibroids form?
submucosal- endometrial cavity; irregular or heavy periods
intramural - most common site; myometrium
subserosal- peritoneal surface of uterus; pedunculate and appearing as extrauterine mass
45
what is adenomyosis?
nests of endometrial tissue within the myometrium
46
what can cause calcifications within the uterus?
fibroids and arcuate arteries
47
what is the size of a vaginal cuff?
2cm
48
who can acquire endometritis?
postpartum patients, occurs with PID too
49
what is the most common ovarian mass?
simple ovarian cysts
50
simple ovarian cysts in postmenopausal women can be what size
less than 5cm before consider malignant
51
what are thecomas
benign, unilateral mass seen in postmenopausal women
52
what pelvic organ in the most involved with metastatic disease?
ovaries
53
what % of postmenopausal bleeding is endometrial carcinoma?
10%
54
what is the most common mass during pregnancy?
corpus leutal cyst
55
what is another term for endometriomas?
chocolate cysts
56
where are endometriomas commonly located?
ovaries, cul-de-sac, retrovaginal septum, peritoneal surface of posterior wall of uterus
57
what is the most common benign tumor of the ovary?
dermoid
58
what is a mucinous cyst adenoma?
Epithelial tumor lined with mucinous elements of endodermis and bowel
Typically larger than serous cyst adenoma
Simple, septated cyst with differing echogenicity
59
what is a serous cyst adenomas?
2nd most common benign tumor of ovary Smaller than mucinous cystadenomas Unilateral, septated, irregular borders
60
what is another name for PCOS?
Stein-Leventhal syndrome
61
what is PCOS?
disorder with chronic anovulation
bilateral enlarged round ovaries
teens-twenties
amenorrhea, obesity, infertile, hirsutism
62
what is salpingitis?
infected fallopian tubes
63
septate uterus can cause what?
infertility
64
In the first trimester, testing is done to identify..
pattern of biochemical markers associated with plasma protein A (PAPP-A) and free BhCG
65
PAPP-A and free BhCG values are used in conjunction with an ultrasound performed between 11 and 14 weeks, what is it?
Nuchal translucency
66
First trimester lab values give a more accurate calculation to determine if a child has..
chromosomal abnormalities
67
Second trimester screening can be performed with..
maternal serum quad screen lab and a targeted ultrasound examination
68
What does quad screen look at?
Alpha-fetoprotein
Human chorionic gonadotropin
Unconjugated estriol
Inhibin-A
69
Chorionic villus sampling
Ultrasound directed biopsy of the placenta or chorionic villi that is an alternative test used to obtain a fetal karyotype by the culturing of fetal cells similar to an amniocentesis
*risk of fetal loss 1-3%
70
When is CVS used?
10-12 weeks
| *Transcervically or transabominally
71
Embryoscopy
A specialized prenatal test that permits the direct viewing of the developing embryo using transcervical endoscope inserted into the extracoelomic cavity during the first trimester
72
Amniocentesis
First used to relieve polyhydramnios, predict Rg isoimmunization, and document fetal lung maturity.
73
Why is amniocentesis performed?
To determine karyotype, lung maturity, and Rh condition
74
Optimal collection sites for amniocentesis
Away from the fetus, placenta, umbilical cord, and maternal midline
75
What is the major protein in the fetal serum that is produced by the yolk sac in early gestation and later by the fetal liver?
Alpha-fetoprotein
76
Where can AFP be found?
Fetal spine
Gastrointestinal tract
Liver
Kidney
77
AFP can be measured in what two things?
Maternal serum (MSAFP) or amniotic fluid (AFAFP)
78
Reasons for high levels of AFP
```
Neural tube defects
Encepaloceles
Kidney lesions
Placental lesions
Heart failure
Liver diseases in mother
Cystic adenomatoid malformations
```
79
MSAFP levels increase with..
advancing gestational age and peak from 15-18 weeks, then decrease with fetal age
80
Which two abdominal wall defect produce elevations of AFP? Which one is higher?
Omphalocele
| Gastroschisis; higher level
81
what is hydrops
excessive fluid within fetal body cavities
82
What is nonimmume hydrops
hydrops that is not related to Rh factor
83
what is the sonographic appearance of hydrops
```
scalp edema
pleural effusion
pericardial effusion
ascites
polyhydramnios
thick placenta
```
84
Hydrops can be caused by
Fetal anemia
85
what are sonographic markers for downs
```
thick NT/nuchal fold
choroid plexus cysts
echogengic bowel
pylectasis
short long bones
echogenic intracardiac focus
absent nasal bone
omphalocele talipes
micrognathia
diaphragmatic hernia
```
86
Another name for trisomy 21
Down syndrome; most common chromosomal disorder, associated with maternal age
87
how often does trisomy 21 occur
1/600 births
88
Another name for trisomy 18
Edwards syndrome; second most common chromosomal disorder
89
how often does trisomy 18 occur
3/10,000 births
90
what are sonographic markers for Edwards
```
heart defects
clench hands
omphalocele
micrognathia
talipes
choroid plexus cysts
strawberry head
cleft lip & palate
diaphragmatic hernia
renal anomalies
cerebellar hypoplasia
meningomyelocele
SUA
IUGR and hydramnios
```
91
Another name for trisomy 13
Patau's syndrome
92
how often does trisomy 13 occur
1/5,000 births
93
what are sonographic markers for Pataus
```
holoprosenchephaly-40%
polydactyly
talipes
cleft lip & palate
renal anomalies
menignomylocele
heart defects
omphalocele
micrognathia
```
94
what are sonographic makers for Turners Syndrome
```
cystic hygroma
heart defects
coarctaion of the aorta
hydrops
renal anomalies
```
95
Turner's syndrome
XO syndrome-occurs in females only
High risk for utero demise
Survivors have ovarian dysgenesis and short stature
96
what commonly causes triploidy
1 ova fertilized by 2 sperm
97
Complete extra set of chromosomes
triploidy
| *majority spontaneously abort prior to 20 weeks
98
what are sonographic markers for Triploidy
```
heart defects
omphalocele
renal anomalies
cranial defects
facial defects
```
99
what is VACTERL
```
Group of complex anomalies
vertebral defects
anal atresia
cardiac anomalies
transesophageal fistula
renal anomalies
limb dysplasia
```
100
what diseases can happen to pregnant women
diabetes hypertension (chronic or pregnancy induced)
101
hypertensive mothers can have what size placenta
small
102
Insulin-dependent diabetes mothers are at an increased risk for
early and late trimester pregnancy loss
| congenital anomalies
103
what are some sonographic markers in diabetic pregnancies
```
polyhydramnios
macrosomia
caudal regression syndrome-most common
NT defects
heart defects
renal anomalies
GI defects
single umbilical artery
```
104
what is preeclampsia
high blood pressure that develops with proteinuria or edema
105
what is eclampsia
mother can develop seizures and coma
106
maternal obesity can cause what type of defects
neural tube defects
107
Uterien fibroids may cause
Pain or premature labor, delivery complications depending upon location
108
Uterine contractions can resolve in how many minutes?
20 to 30 mins
109
Uterine contractions can appear as what on ultrasound?
Focal mass and mimic a fibroid
110
at what week is it still considered preterm labor
37 weeks
111
Zygocity
number of ovum fertilized-monozygotic and dizygotic
112
Chorionicity
number of placentas-monochorioinc and dizygotic
113
Amnionicity
number of amniotic sacs
114
what are dizygotic twins
2 separate ova fertilized by 2 separate sperm
115
what are monozygotic twins
1 fertilized egg that divides into 2 fetuses
116
when does Di-Di twinning occur
division of zygote at 1-3 days
117
when does Di-Mono twinning occur
division of zygote at 4-8 days
118
when does Mono-Mono twinning occurs
division of zygote at 8 days
119
when does conjoined twinning occurs
division of zygote after 13 days
120
what percentage of pregnancies began with twins and end with a singleton
70%
121
what is a vanishing twin
early fetal demise that is absorbed
122
what is fetus papyraceous
fetal death that occurs after the fetus has reached a certain growth that is too large to resorb into the uterus
123
what is poly-oli sequence
"stuck twin" occurs around 16-26 weeks
| one twin has polyhydramnios the other has oligohydramnios
124
what is twin to twin transfusion
an arteriovenous shunt within the placenta the arterial blood of 1 is pumped into the venous system of 2
125
what happens to the fetuses in twin to twin
the donor twin becomes anemic and growth restricted (oligo, pulmonary hypoplasia, renal hypoplasia) poor outcome
the recipient grows too quickly, too much blood, has polyhydramnios, can have heart failure, and hydropic
126
what type of twinning is twin to twin transfustion
monochorionic diamniotic
127
what is acradiac twin
twin abnormality where 1 twin develops without an upper half, occurs in monochorionic twins
128
what are the 5 different locations for conjoined twins
```
thoracopagus- joined at chest
omphalopagus- joined at abdomen
craniopagus- joined at head
pygopagus- joined at butt
ischiopagus- joined at hip
```
129
What is Fitz-Hugh-Curtis syndrome
Perihepatic inflammation that can result from PID or endometritis
130
Another name for 4D
active matrix arrays
131
What was the first company to actively use the 3D technology in 1989?
Kretztechnik AG
132
Basic features of 3D ultrasound
Represent the structure, texture, and form a specific area of interest
133
Steps to obtain a 3D image
* Echo-data must process along an ultrasound beam
* The ultrasound beam must move over the area of interest
* Translation and rotation of the axis from the ultrasound beam and the time of the reflected sound waves creates the 3D data set, which is converted into distance information by the assumption of the speed of sound within the area of interest
* Storage of the data and gap-filling procedure
* Visualization of the data obtained
134
What are the 2 types of 3D acquisitions
Manual "free hand"
| Automatic- more accurate
135
What are the 2 types of 3D imaging modes
Multiplanar reconstruction mode
| Volume rendering mode
136
What is multiplanar reconstruction
First method of 3D imaging
Movement of the intersection planes throughout the 3D volume and rotating the image planes; the sonographer or physician has the liberty to generate anatomic views from an infinite number of perspectives
137
What is volume rendering
This method is an extension of the planar reconstruction method, because the additional image processing techniques are applied to a region of interest (ROI) within the 3D volume data set
138
What are the 2 types of 3D rendering modes
Surface rendering
| Transparent rendering
139
What is surface rendering
Displays surface detail of anatomy Ex. Fetal face
140
What is transparent rendering
Looks beyond the surface anatomy to reveal structures located within
Sometimes called x-ray mode
not useful in OB imaging
141
What are other modes to transparent rendering
Maximum
Minimum
X-ray
142
When does the umbilical cord form
Develops in the first 5 weeks
143
Where does the umbilical cord rise from
Omphalomesenteric (yolk stalk) and allantios ducts
144
How long are the intestines herniated outside the fetal abdomen
From 7-10 weeks
145
What covers the umbilical cord
Whartons jelly-myxomatous connective tissue
146
What is the diameter of the umbilical cord
1-2cm
147
What is the normal length of the umbilical cord
40-60 cm
148
What is the ductus venosus
Conduit between the portal system and systemic veins
149
What is a short cord
Less than 35cm
150
What is a long cord
Greater than 80cm
151
What are true knots
Knot is formed when a loop of cord is slipped over the fetal head or shoulders
152
What are true knots associated with
Long cords
Polyhydramnios
IUGR
Monoamniotic twins
153
What is a velamentous cord insertion
Cord inserts into the membranes before the placenta
154
What is the occurrence of cleft lip and palate with different races
Blacks 1/3,000
Whites 1/600
Asians 1/350
Native Americans 1/150-250
155
What percentage of cleft lips are complete? unilateral?
complete cleft lip- 85%
| unilateral- 70%
156
What is exophtalmia
Abnormal protrusion of the eyeballs
157
What is the most common neck mass
Cystic hygroma
158
Rare neck lesions
```
Cervical meningomyelocele
Hemaniomas
Teratomas
Goiter
Sarcoma
Metastatic adenopathy
```
159
What is anencephaly
Most common neural tube defect
Absence of the brain
Caused by the failure of closure of the neural tube at the cranial end
Lethal
160
What is the occurrence of anencephaly
1/1,200
161
What are cephaloceles
A neural tube defect in which the meninges or meninges and brain herniate thru a defect in the calvarium
162
What abnormalities associate with cephaloceles
Trisomy 13
| Meckel Gruber syndrome
163
What can cause a celphalocele
Amniotic band syndrome
164
What is a encephalocele
A herniation of the meninges and brain thru a defect
165
What abnormalities associate with encephaloceles
Meckel Gruber
166
Meckel Gruber syndrome is commonly identified by what sonographic findings
cephaloceles/ or encephaloceles
polydactytly
polycystic kidneys
167
Arnold-Chiari malformation demonstrates
Banana shaped cerebellum
scalloping frontal bones
lemon shaped head
168
What are the sonographic findings of spina bifida
Splaying of posterior ossification center
Meningocele-protrusion of a saclike structure that may be anechoic
Meningomylocele- contains neural elements
Cleft in skin
Intracranial malformations
169
What kind of intracranial malformations could be present with spina bifida
Lemon head-flattening of the frontal bones
Banana cerebellum
Absent cisterna magna
Ventriculomegaly
170
Abnormalities linked with ventricular dilation include
aqueductal stenosis,
arachnoid cysts,
and vein of Galen aneurysms.
171
Common causes of ventriculomegaly include
spina bifida, and encephaloceles
172
When is a ventricle considered dilated
Greater than 10mm
173
What is the most important determinant for fetal viability?
Pulmonary development
174
Fetuses younger than ____ are considered non viable, due to pulmonary development
24 weeks
175
how do you evaluate the fetal chest
size
shape
symmetry
176
Average cardiac axis is
45 degrees
177
Lung echogenicity
homogenous and moderately echogenci
178
What two problems can complicate the exact determination of echogenicity
Overlying ribs
| Acoustic enhancement produced by blood in the heart
179
ultrasound cannot asses what in the fetal chest
lung maturity
180
what is congetntial cystic adenomatoid malformation (CCAM)
abnormal cystic growths within the bronchial trees that can cause a mediastinal shift, hydrops and polyhydramnios
181
how many types of CCAM are there
3
182
what is type 1 CCAM
several large cysts that replace normal lung tissue
2-10cm
favorable outcome
183
what is type 2 CCAM
lesions that have multiple small cysts < 1cm
poor outcome
associated with fetal and or chromosomal abnormalities in 25% of cases-renal agenesis, pulmonary anomalies, diaphragmatic hernia
184
what is type 3 CCAM
large bulky noncystic mass
| echo-dense masses of the entire lung lobe
185
Common findings with CCAM
Mediastinal shift
Hydramnios
Hydrops
186
Steps to take when CCAM is present
* Determine the number and size of cysts •Check for mediastinal shift
* Identify and asses the size of lungs
* Look for hydrops
* Exclude cardiac masses and other fetal anomalies
187
what are bronchogenic cysts
Occurs within the mediastinum or lung
| Most common lung mass detected prenatally that is a small circumscribed masses without a mediastinal shift
188
what is pulmonary hypoplasia
poor or reduced lung growth causing small, inadequate lungs
189
what is are common causes for pulmonary hypoplasia
prolonged oligohydramnios or a small thoracic cavity
190
what % of neonates die from pulmonary hypoplasia
80%
191
Severity of pulmonary hypoplasia depends on what three things
When it occurred in the pregnancy
Its severity
Duration
192
what is pleural effusion
accumulation of fluid within the pleural cavity appearing isolated or secondary to multiple fetal anomalies
193
if pleural effusion is seen, what structures should be carefully search
lungs, heart and diaphragm to rule out associated abnormalities
194
what is the occurrence of a congenital diaphragmatic hernia
1/2,000 to 1/5,000
195
What is congenital diaphragmatic hernia
an opening in the pleuroperitoneal membrane
196
at how many weeks is the diaphragm intact
by the end of the 8th week
197
what is the most common type of diaphragmatic hernia
hernias 90% of the time are thru the foramen of Bochdalek
198
where is the foramen of Bochdalek located
posterior and laterally
199
what are the 2 most common anterior abdominal wall defects
gastroschisis
| omphalocele
200
what process helps the embryo transform itself into a cylindrical shape
"folding"
201
when do the intestines return to the abdominal cavity
12 weeks
202
what is an omphalocele
central abdominal wall defect with eviscerated bowel and or liver into the base of the umbilical cord
203
what forms the membrane that surrounds the omphalocele
peritoneum and amnion
204
what can occur with omphaloceles
```
ascites
polyhydramnios
complex cardia diseases
GI defects
NT defects
genitourinary tract anomalies
diaphragmatic hernia
```
205
what is gastroschisis
an opening in the abdominal wall with a herniation of bowel, no membranous covering the herniation of the stomach and genitrourinary organs happen infrequently
206
what causes gastroschisis
atrophy of the right umbilical vein or disruption of the omphalomesenteric artery
207
how big are gastroschisis defects
2-4cm located to the right of a normal cord insertion
208
gastroschisis causes an elevation in what lab
MSAFP
209
markedly dilated bowel in gastroschisis may suggest what
infarction or bowel atresia
210
What is amniotic band syndrome
is the rupture of the amnion, which leads to entrapment of entanglement of fetal parts by the "sticky" chorion
211
early entrapment in amniotic bands can lead to what
severe craniofacial defects
| internal malformations
212
associated anomalies associated with amniotic band syndrome
anomalies of the limbs, cranium, face, thorax, spine, and abdominal wall
213
limb body wall complex involves what other defects
cranial defects
facial clefts
body-wall defect of thorax / abdomen (or both)
limb defects
214
scoliosis is associated with what type of defect
limb body wall defect
215
what side is more common to be affected by limb body wall
left side 3x more likely than right
216
what is the sonographic appearance of haustral folds
thin linear echoes with the lumen of the colon
217
what is the normal diameter of the colon at full term
14-18mm
| *later on the colon diameter increases and the fold become longer and thicker
218
what is the appearance of meconium as it grows near term
increasing echogenicty
219
what is situs inversus
total or partial reversal of thoracic and abdominal organs
220
what organs are involved with partial situs inversus
only the heart or abdominal organs are reversed, the stomach may or may not be involved
221
what is pseudoascites
a sonolucent band near the fetal anterior abdominal wall
222
when can pseudoascites be seen
18 weeks or greater
223
what happens in duodenal atresia
the duodenal lumen is blocked by a membrane that prohibits the passage of amniotic fluid, causing a double bubble
224
where are most cases of duodenal atresia founds
below the ampulla
225
what abnormality can often coexist with double bubble
an annular pancreas
226
what % of double bubble cases have trisomy 21
30%
227
what % of duodenal atresia have other anomiles
50%
228
what is the occurrence of esophageal atresia
1/2,500 live births
229
what % of esophageal atresia cases have coexisting anomalies
50%-70%
230
what is the most common anomaly found with esophageal atresia
anorectal atresia (others could be VACTERL)
231
what is the occurrence of extrophy of the bladder
1/50,000 male births
232
what causes bladder extrophy
a defective closure of the inferior part of the abdominal wall at 4 weeks
233
what 2 renal findings are incompatible with life
renal agenesis
| infantile polycystic kidney disease
234
when do the fetal kidney start contributing to amniotic fluid
14-16 weeks
235
in renal agenesis what structures can be mistaken for as kidneys
adrenal glands
236
what is the sonographic appearance of renal agenesis
severe oligohydramnios after 13 to 15 weeks
persistent absence of the bladder
failure to see kidneys
small thorax
237
what is Potters syndrome associated with
```
renal agenesis
oligohydramnios
pulmonary hypoplasia
abnormal facies
malformed hands and feet
```
238
how many types of Potters syndrome are there
4
239
what is type 1 Potters syndrome
(AR) infantile polycystic kidney disease
240
what is type 2 Potters syndrome
renal agenesis, multicystic kidneys, renal dysplasia
241
what is type 3 Potters syndrome
(AD) polycystic kidney disease
242
what is type 4 Potters sydndrome
renal dysplasia obstructive kidney disease
243
what is the most common form of renal cystic disease in infants and neonates
multicystic dysplastic kidney disease
244
what happens in multicystic dysplastic kidney disease
renal tissue is replace by multiple noncommunicating cysts, causing the kidney to be nonfunctional
245
what is the sonographic appearance of infantile polycystic kidney dieases
kidneys appear enlarged
246
what is the most common reason for hydronephorsis in utero
UPJ
247
where does the UPJ obstruction occur
at the junction between the renal pelvis and ureter
248
True/False UPJ's are usually a unilateral defect
True
249
what can cause UPJ
abnormal bend/kinks in ureter abnormal valves in ureter abnormal outlet shape
250
what findings occur with posterior urethral valves
hydronephrosis
hydroureters
enlarged bladder
posterior urethra "keyhole" appearance
251
what is the most common fetal anomaly
hydronephrosis
252
the renal pelvis should not measure more than ____
4mm
253
what is utereocele
cystic dilation of the intravesical segment of the distal ureter
254
what is skeletal dysplasia
abnormal growth and density of cartilage and bone
255
how many types of skeletal dysplasia are there
over 100, but not all are detected by ultrasound
256
dwarfism occurs ______ to a skeletal dysplaisa
secondary
257
what is rhizomelia
short long bones (Hum/Fem)
258
what is mesomelia
short distal bone (ulna/radius, tib/fib)
259
what is micromelia
shortening of all the extremity bones
260
what are sonographic findings of thanatophoric dysplaisa
```
rhizomelia
bowed long bones
narrow thorax
normal trunk length
large head or cloverleaf head
flat vertebral bodies(platyspondyly)
frontal bossing
hypertelorism
```
261
what is type 1 thanatophoric dysplaisa
short, curved femurs and flat vertebral bodies
262
what is type 2 thanatophoric dysplaisa
straight, short femurs, flat vertebral bodies and cloverleaf skull
263
what is the most common nonlethal skeletal dysplaisa
achondroplasia
264
what is the occurence of achondroplasia
5-15/10,000 births 1/66,000 births in USA
265
what type of bones does achondroplasia produce
short, squat bones
266
what % of achondroplasia cases are from spontaneous mutation
80% but some can be transmitted in an autosomal form
267
what is osteogenesis imperfecta
disorder of production, secretion or function of collagen causing brittle bones and hypomineralization
268
what is the occurrence of osteogenesis imperfecta
1/20,000 - 30,000 births
269
what are findings of osteogenesis imperfecta type 2
numerous fractures short femurs decreased mineralization of bones and calvarium
270
what is the occurrence of osteogenesis imperfecta type 2
1/60,000 births
271
jeunes syndrome has what
a very narrow thorax, causing pulmonary hypoplasia
272
how is jeunes syndrome acquired
inherited by an auto-recessive manner
| 1 in 70,000 births
273
what are sonographic findings of jeunes syndrome
small thorax
rhizomelia
renal dysplasia
polydactyly (14%)
274
how often does club foot occur
1/400 births unilateral; higher in males
275
what chromosomal anomaly has rocker-bottom feet
trisomy 18
276
how often does Ellis-Van Creveld syndrome occur
1/200,000 births
277
Ellis-Van creveld syndrome is also known as
chondoectodermal dysplasia
278
what community has a high incidence of Ellis-Van Creveld
Amish
279
what are sonographic features of Ellis-Van Creveld
```
short limbs
polydactyly
heart defects- 50%
narrow thorax
death up to 50%
survivors are short, normal intellect
```
