Skeletal Dysplasias Flashcards
rhizzomelia
shortening of proximal bones
mesomelia
shortening of lower arms and leg
acromelia
shortening of hand and foot bones
micromelia
all limbs are shortened
syndactyly
webbing or fusion of digits
polydactyl
extra digits
clinodactyly
permanent deflection of 1 or more fingers
over lapping fingers
rocker bottom foot
a prominent heel and convex rounded sole
equinovarus
club foot
craniosynostoses
strawberry shape head
premature closure of sutures
thanatophoric dysplasia
MOST COMMON LETHAL
extreme micromelia
long bone bowing
short ribs
clover leaf skull
protruding abdomen
hypo mineralization
thanatophoric dysplasia assoc. findings
poly
frontal bossing
macrocephaly
ASD
CNS anomalies
horseshore kidney
hypertelorism
imperforated anus
achondrogenesis is due to
generalized disorganization of cartilage, ossification failure
2nd most common lethal
achondrogenesis type 1
short limbs
narrow thorax
short ribs
polydactyl
normal skull ossification
achondrogenesis type 2
extreme micromelia
short thorax, fractured ribs
protruding abdomen
hypomineralization
large cranium
poly
hydrops
osteogenesis imperfecta type 1
most frequent
mild
normal limb lengths
deafness
fractures after birth
osteogenesis imperfecta type 2
micromelia
long bones deformed
movement limited
abdomen is protuberant
shorten ribs
osteogenesis imperfecta type 3
most severe
fractures and long bone shortening
Heterozygous Achrondroplasia
most common non lethal dysplasia
Heterozygous Achrondroplasia sono findings
macrocephaly w/ frontal bossing, sadle nose
chest is normal
mild rhizomelia
head/FL discrepancy
non lethal skeletal dysphasias
Heterozygous Achrondroplasia
diastrophic dysplasia
Diastrophic Dysplasia
- Autosomal recessive disorder of cartilage
- Severe micromelia
- Micrognathia - small jaw
- Cleft palate
- Bilateral clubbed feet
- Kyphosis
- Polyhydramnios
camptomelic dysplasia sono findings
bowed long bones
shorten long bones
poorly ossified bones
heart defects
scoliosis
pelvocaliectasis
camptomelic dysplasia assoc. findings
narrow thorax
hydrocephalus
macro
cleft palate
poly
majority die from respiratory failure
chondroectodermal dysplasia
amish pop
short thorax
limb shortening
polydactyl
CHD
sirenomelia
mermaid syndrome
caudal regression
assoc. w/ diabetes
holt oram syndrome
heart anomalies
absence of a digits or radius
roberts syndrome
tetraphomelia
cleft
hypoplastic nasal alae
