Flashcards in Chapter 64 Fetal Skeleton Deck (47):
There are more than _____ types of skeletal dysplasias.
A skeletal dysplasia is suspected when limb lengths fall more than _____ standard deviations below the mean.
Decreased attenuation of bones with decreased shadowing suggests ___________.
Shortening of the proximal bone segment (humerus & femur) _________.
Shortening of the middle segments ( radius/ulna) and (tubia/fibula) __________.
The shortening of the entire extremity ___________.
Most common lethal skeletal dysplasia? __________ and occurs in 1 in ___________.
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?
The most common nonleathal skeletal dysplasia?
Achondroplaisa results from decreased __________ bone foundation, which produces short, squat bones.
Sonographic findings of the thanatophoric dysplasia
-severemicromelia (especially of the proximal bone)
-cloverleaf deformity ( kteeblattschadal skull)
-Narrow thorax with shortened ribs)
-Flat vertebral bodies
With heterozygous achondroplasia inherited from one parent, has a _____ survival rate with ______ intelligence.
Homozygous achondroplasia, inherited from two parents, is considered ______, from respiratory complications.
The sonographic features of achondroplasia may not be evident until after _________ of gestation.
Sonographic findings of achondroplasia....
-Depressed nasal bridge
Achondrogenisis is a rare, _____ skeletal dysplasia. It is caused by _______ abnormalities that result in abnormal bone formation and hyperminerilaztion.
Two types of achondrogenisis are types I (_________) and II (________).
Type I achondrogenisis is considered __________ and is transmitted in an autosomal _______ mode, wheras type II is ________, more common, and is a spontaneous mutation.
The prognosis for achondrogenisis is _____.
Sonographic findings of achondrogenisis.....
-Decreased or absent ossification of the spine
-Short thorax and short ribs
Osteogenesis imperfecta is a rare disorder of ______ production leading to.....
-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.
Type ____ osteogenisis imperfecta is the most severe, having a lethal outcome. May be autosomal-dominate or autosomal-recessive or may be a spontaneous mutation.
In osteogenisis imperfecta the calvarium will be compressible because of _____________. May also have bones that are bowed or rib fracture.
Congenital hypophosphatasia presents with diffuse hypomineralization of the bone caused by an ____________ deficiency, and its considered a _______ disorder.
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.
The prognosis for diastrophic dysplasia is _________.
Sonographic findings for diastropic dysplasia....
-Fixed thumb ( Hitch Hiker Thumb)
Camptomelic dysplasia is a group of rare _____ skeletal dysplasias that are characterized by ______ of the long bones (Tibia and Femur)
Robert's syndrome is a rare autosomal _______ disorder characterized by ....
recessive, plaoccmelia and facial anomalies
Roberts syndrome is also known as _________
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.
Type 1 is also known as ________
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.
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 _______.
Sirenomelia (fusion of the lower extremities) is considered a lethal anomaly because of the severe __________ that result in oligohydramnios and pulmonary hypoplasia.
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 and _______ have similar features.