Chapter 29: Normal and Abnormal Fetal Limbs Flashcards
shortening of the most distal portion of a fetal limnb
acromelia
abnormal shortening of the middle portion of a limb
mesomelia
abnormally short limb
micromelia
flattened vertebral bodies with a decreased distance between the end plates
platyspondyly
condition of having more than the normal number of digits on a hand or foot
polydatyly
shortening of the most proximal portion of a fetal limb
rhizomelia
fusion of soft tissue or bony segments of fetal digits
syndatyly
abnormal position of the fetal foot and ankle
talipes
Achondrogenesis is ______ dominant. (limb shortening)
micromelia
Achondroplasia is _____ dominant. (limb shortening)
rhizomelia
Asphyxiating thoracic dysplasia is _____ dominant. (limb shortening)
mesomelia
Camptomelic dysplasia is _____ dominant. (limb shortening)
mesomelia, rhizomelia
Congenital hypophosphatasia is _____ dominant. (limb shortening)
micromelia
Ellis-van Creveld is ______ dominant. (limb shortening)
rhizomelia
Hypophosphatasia is ______ dominant. (limb shortening)
micromelia
Osteogenesis imperfecta is _______ dominant. (limb shortening)
micromelia
Short-rib polydatcyly is ______ dominant. (limb shortening)
micromelia
Thanatophoric dysplasia is _____ dominant. (limb shortening)
micromelia
Skeletal dysplasias associated with curved or bowed long bones
camptomelic dysplasia
hypophosphatasia
osteogenesis imperfecta
thanatophoric dysplasia
skeletal dysplasias associated with hypomineralization
achondrogenesis
camptomelic dysplasia
hypophosphatasia
osteogenesis imperfecta
short-rib polydactyly syndrome
thanatophoric dysplasia
skeletal dysplasias associated with narrow thorax
achondrogenesis type I
achondroplasia
asphyxiating thoracic dysplasia
camptomelic dysplasia
short rib polydatyly syndrome
thanatorphic syndrome
Skeletal dysplasias associated with polydactyly
asphyxiating thoracic dysplasia
Ellis-van Creveld syndrome
short rib polydactyly syndrome
VACTERL association
Skeletal dysplasias associated with radial aplasia or hypoplasia
Holt-Oram syndrome
Thrombocytopenia-absent radius syndrome
VACTERL association
Skeletal dysplasias associated with bone fractures
achondrogenesis
hypophosphatasia
osteogenesis imperfecta
Skeletal dysplasias associated with heart disease
Asphyxiating thoracic dysplasia
Ellis-van Creveld Syndrome
Holt-Oram syndrome
Short-rib polydactyly syndrome
VACTERL association
Skeletal dysplasias associated with macrocephaly
achondroplasia
camptomelic dysplasia
thanatorphic dysplasia
Anomalies associated with thanatorphic dwarfism
hypomineralization
macrocephaly
frontal bossing
narrow thorax
Anomalies associated with Achondroplasia
macrocephaly
hydrocephaly
frontal bossing
narrow thorax
Anomalies associated with achondrogenesis
hypomineralization
narrow thorax
bone fractures
micromelia
micrognathia
Anomalies associated with short rib polydactyly syndrome
narrow thorax
hypomineralization
poldactyly or syndactyly
gastrointestinal/genital/urogenital malformations
cleft lip/palate
Anomalies associated with asphyxiating thoracic dysplasia
narrow thorax
polydactyly
pelvic/renal anomalies
anomalies associated with Ellis-van Creveld syndrome
polydactyly
short limbs
narrow thorax
heart malformations
dysplastic nails/teeth
abnormal upper lip
anomalies associated with osteogenesis imperfecta
curved or bowel long bones
hypomineralization
bone fractures
bell-shaped thorax
anomalies associated with camptomelic dysplasia
curved or bowed long bones
hypomineralization
macrocephaly
bell-shaped thorax
micrognathia
hydrocephalus
cleft palate
pyelectasis
hypoplastic scapulae
anomalies associated with congenital hypophosphatasia
hypomineralization
curved or bowed long bones
short bones
anomalies associated with dystosis
abnormal ossification
craniofacial dystosis
syndactyly
Fetal limb buds visualize as early as ___ weeks with endovaginal ultrasound
8
The long bones fully develop between ___-____ weeks
7-12
Primary ossification centers image at ___ weeks
10
The bones in the hand and feet are developed between the __ and ___ weeks
11-13
Movement of limbs and terminal phalanges can be visualized at __ weeks
11
The femur, humerus, radius, ulna, tibia, and fibula can be accurately measured at ___ weeks.
12
The high amplitude reflection of bone is generated by the _____ content.
calcium
epiphyes
secondary ossification centers
The epiphyes are separated from the shaft of the fetal long bone by a layer of ______
cartilage
The distal femoral epiphyes is visualized between __ and __ weeks
32, 34
The proximal tibial epiphysis is visualized at approximately ___-__ weeks
34, 35
The proximal humeral epiphyses is visualized at ____
term
Ossification during second trimester includes the bones:
metacarpals, phalanges, talus, calcaneus, pubis of ankle
After birth ossification bones include:
carpal and tarsal bones
most commonly measured long bone
femur
The femur should look ____, _____, and _______.
straight
symmetrical
evenly ossified
The femur has a straight appearance _____, and a bowed appearance _____.
laterally
medially
The femur should be measured from outer margin to outer margin with the junction of the bone and cartilage excluding _____ and ____.
femoral head
distal epiphyses
The femur grows approximately __ mm from 14-27 weeks
3
The femur grows approximately __ mm from third trimester to term.
1
The accuracy of the femur bone measurement in the second trimester is:
+/- 1 week
The accuracy of the femur bone measurement in the third trimester is:
+/- 3.5 weeks
Femoral length varies with:
maternal height, weight, ethnicity
The femur and the _____ visualize the same on sonographic imaging.
humerus
The tibia is ____ and oriented _____.
thicker
medially
The ulna is longer than the _____
radius
The fetal hand should be identified in ____ and _____.
flexion and extension
abnormal development of cartilaginous and osseus tissues; results in bones that appear shortened, thin, deformed, fail to form at all
skeletal dysplasias
sharp angulations in midshaft of bone
fracture
bones that appear thin or unevenly mineralized
abnormal skeletal mineralization
proximal portion of extremity shortened i.e. humerus, femur
rhizomelia
shortening of middle or intermediate segment of extremity, i.e. radius, ulna, fibula, tibia
mesomelias
shortening of distal portion of an extremity, i.e. hands and feet bones
acromelia
shortening of entire extremity
micromelia
disorder defined as premature fusion of one or more cranial sutures
craniosynostosis
Craniosynostosis is caused by:
external forces
Most severe form of craniosynostosis
Kleeblattschadel or cloverleaf deformity
Craniosynostosis can be associated with:
thanatorphoric dysplasia
abnormally small lower jaw, abnormally shaped ears, frontal bossing
micrognathia
Lethal skeletal dysplasias are often accompanied by:
pulmonary hypoplasia
reduction in number of airways, lung cells, and alveoli
pulmonary hypoplasia
Most common sonographic appearance of pulmonary hypoplasia
bell-shaped narrow thorax
FL/AC of less than 0.16 or a TC/AC of less than 0.79 indicates:
hyperplastic thorax
most common form of lethal skeletal dysplasia
thanatorphic dysplasia
Thanatophoric dysplasia is transmitted ______ fashion by mutations of fibroblast growth factor receptor 3
autosomal dominant
Type __ thanatorphic dysplasia is the most common
I
extreme rhizomelia, bowed long bones with a “telephone receiver” appearance, normal trunk length, platyspondyly, and frontal bossing
Type I thanatorphic dysplasia
straighter long bones, taller vertebral bodies, cloverleaf skull
Type II thanatorphic dysplasia
Narrow thorax with a protruding abdomen in thanatorphic dysplasia is said to have a _____ appearance
champagne cork
most common nonlethal type of dwarfism
achondroplasia
Achondroplasia is inherited in a _______ fashion caused by spontaneous mutation in the FGFR3 gene.
autosomal dominant
Characteristic features of achondroplasia:
rhizomelic limb bowing
frontal bossing
low nasal bridge
trident hand
increased space between third and fourth digits
trident hand
Type I achondrogenesis known as _________.
Parenti-Fraccaro
Achondrogenesis is inherited in a _______ fashion
autosomal recessive
Parenti-Fraccaro achondrogenesis is characterized by:
extreme micromelia
large head
short and thin ribs that may have fractures
poor ossification of skull, spine, and pelvic bones
Type II achondrogenesis is known as ______.
Langer Saldino