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OBGYN Exam 3 > Skeletal Dysplasias > Flashcards

Skeletal Dysplasias Flashcards

1
Q

rhizzomelia

A

shortening of proximal bones

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2
Q

mesomelia

A

shortening of lower arms and leg

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3
Q

acromelia

A

shortening of hand and foot bones

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4
Q

micromelia

A

all limbs are shortened

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5
Q

syndactyly

A

webbing or fusion of digits

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6
Q

polydactyl

A

extra digits

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7
Q

clinodactyly

A

permanent deflection of 1 or more fingers
over lapping fingers

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8
Q

rocker bottom foot

A

a prominent heel and convex rounded sole

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9
Q

equinovarus

A

club foot

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10
Q

craniosynostoses

A

strawberry shape head
premature closure of sutures

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11
Q

thanatophoric dysplasia

A

MOST COMMON LETHAL
extreme micromelia
long bone bowing
short ribs
clover leaf skull
protruding abdomen
hypo mineralization

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12
Q

thanatophoric dysplasia assoc. findings

A

poly
frontal bossing
macrocephaly
ASD
CNS anomalies
horseshore kidney
hypertelorism
imperforated anus

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13
Q

achondrogenesis is due to

A

generalized disorganization of cartilage, ossification failure
2nd most common lethal

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14
Q

achondrogenesis type 1

A

short limbs
narrow thorax
short ribs
polydactyl
normal skull ossification

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15
Q

achondrogenesis type 2

A

extreme micromelia
short thorax, fractured ribs
protruding abdomen
hypomineralization
large cranium
poly
hydrops

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16
Q

osteogenesis imperfecta type 1

A

most frequent
mild
normal limb lengths
deafness
fractures after birth

17
Q

osteogenesis imperfecta type 2

A

micromelia
long bones deformed
movement limited
abdomen is protuberant
shorten ribs

18
Q

osteogenesis imperfecta type 3

A

most severe
fractures and long bone shortening

19
Q

Heterozygous Achrondroplasia

A

most common non lethal dysplasia

20
Q

Heterozygous Achrondroplasia sono findings

A

macrocephaly w/ frontal bossing, sadle nose
chest is normal
mild rhizomelia
head/FL discrepancy

21
Q

non lethal skeletal dysphasias

A

Heterozygous Achrondroplasia
diastrophic dysplasia

22
Q

Diastrophic Dysplasia

A
  • Autosomal recessive disorder of cartilage
  • Severe micromelia
  • Micrognathia - small jaw
  • Cleft palate
  • Bilateral clubbed feet
  • Kyphosis
  • Polyhydramnios
23
Q

camptomelic dysplasia sono findings

A

bowed long bones
shorten long bones
poorly ossified bones
heart defects
scoliosis
pelvocaliectasis

24
Q

camptomelic dysplasia assoc. findings

A

narrow thorax
hydrocephalus
macro
cleft palate
poly
majority die from respiratory failure

25
Q

chondroectodermal dysplasia

A

amish pop
short thorax
limb shortening
polydactyl
CHD

26
Q

sirenomelia

A

mermaid syndrome
caudal regression
assoc. w/ diabetes

27
Q

holt oram syndrome

A

heart anomalies
absence of a digits or radius

28
Q

roberts syndrome

A

tetraphomelia
cleft
hypoplastic nasal alae

OBGYN Exam 3 (4 decks)

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