Chapter 64 Fetal Skeleton Flashcards
There are more than _____ types of skeletal dysplasias.
100
A skeletal dysplasia is suspected when limb lengths fall more than _____ standard deviations below the mean.
Two
Decreased attenuation of bones with decreased shadowing suggests ___________.
Hypomineralization
Shortening of the proximal bone segment (humerus & femur) _________.
Rhizomelia
Shortening of the middle segments ( radius/ulna) and (tubia/fibula) __________.
Mesomelia
The shortening of the entire extremity ___________.
Micromelia
Most common lethal skeletal dysplasia? __________ and occurs in 1 in ___________.
Thanatophoric Dysplasia
4,000 to 10,000 Births
Type 1 Thanatophoric?
Short, curved femurs and flat vertebral bodies
Type 2 Thanatophoric?
Straight, short femurs, flat vertebral bodies, and a cloverleaf skull
Whats the prognosis for thanatophoric dysplasia?
Very Poor
The most common nonleathal skeletal dysplasia?
Achondroplasia
Achondroplaisa results from decreased __________ bone foundation, which produces short, squat bones.
Endochondral
Sonographic findings of the thanatophoric dysplasia
- severemicromelia (especially of the proximal bone)
- cloverleaf deformity ( kteeblattschadal skull)
- Narrow thorax with shortened ribs)
- Protuberant abdomen
- Hypertelorism
- Frontal bossing
- Flat vertebral bodies
- Polyhydramos
- Hydrocephalus
- Nonimmune hydrops
With heterozygous achondroplasia inherited from one parent, has a _____ survival rate with ______ intelligence.
Good
Normal
Homozygous achondroplasia, inherited from two parents, is considered ______, from respiratory complications.
Lethal
The sonographic features of achondroplasia may not be evident until after _________ of gestation.
22 Weeks
Sonographic findings of achondroplasia….
- Rhizomelia
- Macrocephaly
- Trident hands
- Depressed nasal bridge
- Frontal bossing
- Mild ventricalomegaly
Achondrogenisis is a rare, _____ skeletal dysplasia. It is caused by _______ abnormalities that result in abnormal bone formation and hyperminerilaztion.
Lethal
Cartilage
Two types of achondrogenisis are types I (_________) and II (________).
Parenti-Fraccaro
Langer-Saldino
Type I achondrogenisis is considered __________ and is transmitted in an autosomal _______ mode, wheras type II is ________, more common, and is a spontaneous mutation.
More severe
Rescessive
Less severe
The prognosis for achondrogenisis is _____.
Poor
Sonographic findings of achondrogenisis…..
- Severe micromelia
- Decreased or absent ossification of the spine
- Macrocephaly
- Short thorax and short ribs
- Microgenathia
- Polyhydramnios
- Hydrops possibly
Osteogenesis imperfecta is a rare disorder of ______ production leading to…..
Collagen
-Brittle bones, teeth, skin and ligaments; and blue sctera
Osteogenisis imperfecta has ______ classifications. Types ______ are the mildest and transmitted in an autosomal - ________ fashion. Type _____ is a severe form that maybe transmitted in an autosomal - ________ manner.
Four
1&4
3
Recessive
Type ____ osteogenisis imperfecta is the most severe, having a lethal outcome. May be autosomal-dominate or autosomal-recessive or may be a spontaneous mutation.
2
In osteogenisis imperfecta the calvarium will be compressible because of _____________. May also have bones that are bowed or rib fracture.
Hypomineralization
Congenital hypophosphatasia presents with diffuse hypomineralization of the bone caused by an ____________ deficiency, and its considered a _______ disorder.
Alkaline phosphatase
Lethal
Sonographic findings of congenital hypophosphatasia….
- Diffuse hypomineralization of the bones
- Moderate to severe micromelia
- Extremities that may be bowed, fractured, or absent
- Poorly ossiticed cranium
- Small thoracic cavity
Diastropic dysplasia is a rare disorder characterized by _________,__________,_________,__________,__________, and is inherited in an autosomal-_______ pattern.
Micromelia Talipes Clef palate -Micrograthia -Scrolosis Recessive
The prognosis for diastrophic dysplasia is _________.
Variable
Sonographic findings for diastropic dysplasia….
- Micromelia
- Talipes
- Fixed thumb ( Hitch Hiker Thumb)
- Scoliosis
- Club foot
- Micrograthia
- Cleft palete
Camptomelic dysplasia is a group of rare _____ skeletal dysplasias that are characterized by ______ of the long bones (Tibia and Femur)
lethal, bowing
Robert’s syndrome is a rare autosomal _______ disorder characterized by ….
recessive, plaoccmelia and facial anomalies
Roberts syndrome is also known as _________
pseudothalidomide syndrome
Short-rib plydactyly is a lethal dysplasia characterized by …
short ribs, short limbs, and polydactyly
There have been ____ primary types of short-rib polydactyly syndrome, which are inherited in an autosomal-_______ manner.
four, recessive
Type 1 is also known as ________
type 2_________
Type 3________
Type 4________
saldino-noonan syndrome
majewski syndrome
naumoff syndrome
beemer-langer Dysolasia
Jeune’s syndrome also know as asphycicting thoracic dysplasia, is a skeletal dysplasia characterized by a very ______ thorax and is inheritaed in an autosomal- _______manner.
norrow, recessive
Ellis-Van Crevald syndrome is also known as ________ dysclasia. With increased frequency in the ____ community. Its is inherited in an autosomal________ pattern.
chondroectodermal, Amish, recessive
Cauda regression syndrome (CRS) includes a range of malformations of the caudal end of the _______.
neural tube
Sirenomelia (fusion of the lower extremities) is considered a lethal anomaly because of the severe __________ that result in oligohydramnios and pulmonary hypoplasia.
renal anomalies
What does VACTERL stand for?
vertebral, anal atresia, cardiac anomalies, tracheoesphogeal fistula, renal anomalies and limb dysplasia
Severe contractions of the extremities because of abnormal innervation and disorders of th muscles and connective tissue. May be inherited or sporadic
arthrogryposis multiplex congenita
Webbing across the joints and multiple contractures. Inherited autosomal- recessive
Lethal multiple pterygium syndrome.
Abnormal joint contractures, facial abnormalities, polyhdramnios , intrauterine growth restriction, and pulmonary hypolasia
pena-shokeir syndrome
Pena-shokeir syndrome and _______ have similar features.
trisomy 18
Club foot has been associated with exposure to…
tabocurarine, sodium aminepterin, and lead poisoning and associated with oligohydramnios and multiple gestations
