Test 4 Part 2 Flashcards
how is duodenal atresia characterized?
- stenosis
- atresia
- development of webs that obstruct the distal duodenum
what syndrome is associated with duodenal atresia?
trisomy 21
what sign is seen with duodenal atresia?
Double Bubble Sign
-dilated stomach and proximal duodenum
what is commonly associated with duodenal atresia?
polyhydramnois
what is used when duodenal atresia is found to assess for chromosomal anomlaies?
amniocentesis
what is esophageal atresia?
result of a congenital blockage of the esophagus and may be associated with a fistula connecting the esophagus and trachea
what is esophageal atresia associated with?
- trisomy 21 and 18
- VACTERL association
what is the most suggestive sonogrpahic finding for esophageal atresia?
absent stomach
where may obstruction of bowel occur?
anywhere along the length of the small or large bowel
the more ______ the level of obstruction, the more likely polyhydramnois will be identified
proximal
how may bowel obstructions occur?
- malrotation
- atresia
- volvus
- peritoneal bands
what may bowel obstruction be isolated or associated with?
- cystic fibrosis
- ascites
- meconium periotonitis
- other anomalies
how does bowel obstruction appear as?
dilated loops to the level of obstruction
how are proximal bowel obstructions more likely to appear as?
fluid filled
what is meconium peritonitis?
rare and is a complication in fetuses with perforation of a bowel obstruction
what may meconium peritonitis result in?
inflammatory reaction and formation of a meconium pseudocyst
what may be identified in fetuses with meconium peritonitis?
polyhydramnois
what may sonogrpahic examination reveal with meconium peritonitis?
calcifications in the fetal abdomen on the peritoneal surfaces and in the scrotum in the male fetus
what is fetal ascites?
reult of fluid collection in the fetal abdomen
what may fetal ascites be associated with?
- bowel or bladder perforations
- fetal hydrops
- congenital infections
- fetal neoplasms
what is the sonographic evaluation of fetal ascites?
show flow outlining the abdominal organs and the fetal bowel
what should not be confused with fluis in the fetal abdomen?
The hypoechoic muscle adjacent to the fetal skin
what is important when locating abdominal cysts?
sonographic identification of the origin of the cyst and determination of the gender of the fetus
many cysts identified in female fetuses are _______ in origin
ovarian
what are cystic lesions located in the liver or RUQ?
- choledochal cysts
- hepatic cysts
- gallbladder duplication
what are urachal cysts?
cysts between the bladder and the umbilicus
where may duplication cysts be identified?
anywhere along the GI tract and may show the muscular layers of gut rather than a thin wall
what cysts may be identified in abdominal cysts?
- mesenteric
- omental
- renal
- adrenal
what is the most common congenital neoplasm with a female-to-male ratio?
sacrococcygeal teratoma
where do sacrococcygeal teratomas arise from?
three germ cell layers (ectoderm, endoderm, mesoderm)
are sacrococcygeal teratomas usually benign or malignant?
benign
SCT’s are usually _______ but may have what?
external tumors but may have intrapelvic extension
where may teratomas arise?
anywhere in the fetus, including the liver and brain
why is the outcome for sacrococcygeal teratomas generally poor?
because of the development of:
- fetal hydrops
- cardiac failure
- anemia
- tumor hemorrhage or rupture
- premature delivery from polyhydramnois
what are skeletal dysplasia’s?
rare goup of anomalies that involve abnormal development of bone and cartilage
what are the most common types of skeletal dysplasia?
- thanatophoric dysplasia
- achondrogenesis
- achondroplasia
- osteogenesis imperfecta
- short rib-polydactyly syndrome
what may be used to assist in an accurate diagnosis of skeletal dysplasia?
chromosomal analysis and genetic testing
what are bones evaluated for?
shape and for fractures
what should hands and feet be assessed for?
abnormal postruing and polydactyly
what manifests with a hitchhickers thumb and SRPS?
diastrophic dysplasia
why should the fetal thorax be analyzed for narrowing?
associated with pulmonary hypoplasia which is a feature of many lethal skeletal dysplasias
what factors could lead to a specific diagnosis?
absence or presence of other associated anomalies
- facial clefts
- hydrocephalus
- heart defects
what is the most common lethal skeletal dysplasia?
thanatophoric dysplasia
what is the outcome for thanatophoric dysplasia?
infants usually die shortly after birth of pulmonary hypoplasia and respiratory distress
which type of thanatophoric dysplasia is more common?
type 1
how is type 1 thanatophoric dysplasia classified?
characterized by:
- micromelia
- curved femurs
- narrow thorax
how is type 2 thanatophoric dysplasia characterized?
characterized by:
- micromelia
- straight femora
- a narrow thorax
- cloverleaf skull
what is Achondrogenesis?
a lethal skeletel dysplasia caused by a defect in cartilage formation that leads to abnormal bone formation and hypomineralization of the bones
what are the 2 types of Achondrogenesis classified on?
histologic and radiologic characteristics
which achondrogenesis is mores severe?
Type 1 (parenti-fraccaro)
how is type 1 achondrogenesis classifed?
- severe micromelia
- lack of ossification of the spine and calvari
- fractured ribs
which type of achondrogenesis is more common?
type 2 achondrogenesis (langer-saldino)
how is type 2 achondrogenesis charcterized?
- micromelia
- variable ossification of the spine and calvaria
what is the most common of the nonlethal skeletal dysplasias?
achondroplasia
how does achondroplasia occur?
from abnormal endochondral bone formation that results in rhizomelia
what does the fetus look like with achondroplasia?
- large head
- prominent forehead
- depressed nasal bridge
- marked lumbar lordosis
what are uncommon complications of achondroplasia?
- brainstem or cervical spinal cord compression
- severe hydrocephalus
- spinal stenosis
how is achondroplasia transmitted?
through an autosomal dominant mode
which form of achondroplasia is rare and lethal? (homogenous or heterogenous)
homogenous
what is short rib-polydactly syndrome (SRPS)?
an autosomal recessive skeletal dysplasia characterized by the presence of short limbs and ribs and polyfactlyl
what is type 1 of SRPS also known as?
Saldino-Noonan syndrome
what is type 2 of SRPS also known as?
Majewski Syndrome
what is type 3 of SRPS also known as?
Verma-Naumoff Syndrome
what is type 4 of SRPS also known as?
Beemer-Langer Syndrome
what does osteogenesis imperfecta lead to?
-brittle bones affects the: -teeth -ligaments -skin -blue sclera
what is type 1 and 4 of osteogenesis imperfecta?
the mildest forms transmitted through autosomal dominant modes of inheritance
what is type 3 of osteogenesis imperfecta?
a severe form transmitted throuhh autosomal dominant or recessive modes
what is type 2 of osteogenesis imperfecta?
the most severe and lethal form transmitted through autosomal dominant or recessive modes or the result of a spontaneous mutation
which type of osteogenesis imperfecta is most likely to be diagnosed prenatally?
Type 2
what does the VACTERL association include?
- vertebral anomalies
- anal atresia
- cardiac defects
- tracheoesphageal fistula
- renal anomalies
- limbs defects
what may be additional findings with VACTERL association?
single umbilical artery and polyhydramnois
what is talipes?
club foot
- involves abnormalities of the foot and ankle
- unilateral or bilateral, and a male prevalence is seen
- most cases are isolated and idiopathic is seen
what may talipes be associated with?
- oligohydramnois
- chromosomal abnormalities
- skeletal dysplasias
- other syndromes
how is rocket bottom foot identified?
when the bottom of the foot in convex
what has rocket bottom foot been associated with?
- syndromes
- chromosomal abnormalities (tri 18)
what is polydactyly?
extra digits of the hand and/or feet
what is polydactyly associated with?
trisomy 18
how is polydactyly presented?
abnormal posturing
- clenched hands
- overlapping digits
what is radial ray defect?
absence or hypoplasia of the radius
what is radial ray defect associated with?
- skeletal dysplasia
- chromosomal anomalies
- syndromes
what does the radial ray defect look like?
gives the arm a characteristic clubhand apperance
