Fetal skeleton Flashcards
what is the most common spinal skeletal dysplasia
platyspondyly (short flat ribs)
most common lethal skeletal dysplasia
thanatrophoric dysplasia
hitchhiker thumb is seen in (2)
- diastrophic dysplasia
- short rib polydactyly syndrome
hitch hiker thumb and club foot
diastrophic dysplasia
curved femur and platyspondyly (and narrow thorax + micromelia)
type 1 thanatrophoric
straight femur and cloverleaf skull (and narrow thorax + micromelia)
type 2 thanatrophoric
most common nonlethal skeletal dysplasia
achondroplasia
skeletal dysplasia where there is hypomineralization of the vertebrae, and the skull is not affected
achondrogenesis type II
rhizomelia, acromelia, macrocephaly
trident hand
achondroplasia
fractured ribs may be associated with (2)
- osteogenesis imperfecta
- achondrogenesis type I
hypomineralization and severe limb shortening
achondrogenesis
trident hand is associated with
achondroplasia
form of achondroplasia compatible with life
heterozygous achondroplasia
no rib fractures are seen in
achondrogenesis type II
micromelia, short ribs, narrow thorax, polydactyly
short rib-polydactyly syndrome
skeletal dysplasia with the most severe degree of limb shortening
achondrogenesis
most common anomaly associated with fetal fractures
osteogenesis imperfecta
type 2 thanatrophoric presents as (4)
- straight femur
- cloverleaf skull
- narrow thorax
- micromelia
Achondrogenesis type I findings (4)
- hypomineralized skull
- hypomineralized skeleton
- rib fractures
- micromelia
type 1 thanatrophoric presents as (4)
- curved femur
- platyspondyly
- micromelia
- narrow thorax
platyspondyly
flattened spinal bone
hypomineralized skull and normal spine is seen in
type 2 osteogenesis imperfecta
Achondrogenesis type II findings (4)
- hypomineralization of the vertebrae
- skull not affected
club foot associated with (4)
- trisomy 18
- oligohydramn
- skeletal dysplasia
- spina bif
how does rockerbottom foot present as
convex foot
rockerbottom foot associated with what chromosomal abnormality
trisomy 18
sandal foot associated with what chromosomal abnormality
trisomy 21
polydactyly is associated with which chromosomal abnormality
trisomy 18
trisomy 13
meckel-gruber syndrome (cystic kidneys, encephalocele, polydactyly)
clenched hand is associated with which chromosomal abnormality
trisomy 18
syndactyly
fusion of two or more digits
cinodactyly
inward curvature of 5th digit
clubhand appearance
radial ray defect
caudal regression syndrome is strongly assoc with
poorly controlled diabetes meillitus
failure of normal vascular supply to the aorta causes
sirenomelia
rhizomelia
shortening of proximal segment (femur, humerus)
mesomelia
shortening of middle segment (radius, ulna, tib, fib)
acromelia
shortening of distal segment (hands and feet)
micromelia
shortening of entire limb
IUGR vs skeletal dysplasia - how to differentiate
use femur length to foot length ratio
severe IUGR ratio is normal (both reduced)
with skeletal dysplasa, femur length:foot length ratio decreases
