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Ob Hagen > Chapter 64 > Flashcards

Chapter 64 Flashcards

1
Q

Shortening of middle segments

A

Mesomelia

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2
Q

Shortening of entire extremity

A

Micromelia

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3
Q

Shortening of distal segments

A

Acromelia

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4
Q

Most common lethal

A

Thanatophoric

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5
Q

Lethal short limb dwarfism
Clover leaf skull
Ventriculomegaly
Protuberant abdomen

A

Thanatophoric

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6
Q

Most common nonlethal

A

Achondroplasia

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7
Q

Short squat bones

A

Achondroplasia

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8
Q

Defect in cartilage of epiphyseal bones

A

Achondroplasia

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9
Q

Advanced paternal age risk

A

Achondroplasia

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10
Q

When do we see femoral or humoral length fall behind SD in achondroplasia

A

After 22 weeks

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11
Q

Extremities notably shortened
Normal trunk
Enlargement of head

A

Heterozygous achondroplasia

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12
Q

Short limb dwarfism affecting fetuses of achondroplastic parents

A

Homozygous achondroplasia

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13
Q

Cartilage malformation

Abnormal bone and hypomineralization

A

Achondrogenesis

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14
Q

Which type of achondrogenesis is more severe

A

Type 1- Parenti Fraccaro

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15
Q

Flipper like appendages
Lethal
Long bone and trunk shortening

A

Achondrogenesis

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16
Q

Disorder of collagen production

Brittle bones

A

Osteogenesis imperfecta

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17
Q

Hypomineralization
Multiple fractures
Bell shaped thorax
Compression of chest

A

Osteogenesis imperfecta

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18
Q

Hypomineralization caused by alkaline phosphatase deficiency

A

Hypophosphatasia

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19
Q

Similar to OI type 2 and achondrogenesis

A

Hypophosphatasia

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20
Q

Bowed or fractured bones
Poorly ossified cranium
Ribbon like bowed limbs

A

Hypophosphatasia

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21
Q

Hitchhiker thumb
Scoliosis
Talipes

A

Diastrophic dysplasia

22
Q

Bent or bowing or long bones

Lethal and rare

A

Camptomelic dysplasia

23
Q

Rare phocomelia and facial anomalies

A

Roberts syndrome

24
Q

Survivors are growth restricted with severe mental retardation

A

Roberts syndrome

25
Q

Seal like extremities
Bilateral cleft lip
Hypertelorism
Microcephaly

A

Roberts syndrome

26
Q

Short ribs, limbs and polydactyly

A

Short rib polydactyly syndrome

27
Q

Narrow thorax and ribs
Polydactyly
Micromelia
Midline facial cleft

A

Short rib polydactyly syndrome

28
Q

Asphyxiating thoracic dysplasia

A

Jeunes syndrome

29
Q

Small thorax
Rhizomelia
Renal dysplasia

A

Jeunes syndrome

30
Q

Increased frequency in Amish

A

Ellis van creveld syndrome

31
Q

Limb shortening
Narrow thorax
Polydactyly
Cardiac defects

A

Ellis van creveld syndrome

32
Q

Malformation of caudal end of neural tube

A

Caudal regression syndrome

33
Q

Sacral Agenesis
Talipes
Contractures or decreased movement

A

Caudal regression syndrome

34
Q

Mermaid syndrome

A

Sirenomelia

35
Q

Extreme for of caudal regression

A

Sirenomelia

36
Q

Fusion of lower extremities
Bilateral renal Agenesis
Single umbilical artery
Oligo

A

Sirenomelia

37
Q

Severe contractures of extremities

Abnormal innervation

A

Athrogryposis multiplex congenita

38
Q

Rigid extremities
Flexed arms
Hyperextended knee
Clenched hands

A

Athrogryposis

39
Q

Joint webbing and multiple contractures

A

Lethal multiple pterygium syndrome

40
Q

Limb contractures
Cystic hygroma
Webbing of joints

41
Q 
Clenched hands 
Rocker bottom feet 
Talipes 
Joint contractures 
Similar to trisomy 18
A

Pena Shokeir syndrome

42
Q

Absence of one or more extremities

43
Q

Webbing or fusion of digits

A

Syndactyly

44
Q

Split hand

Lobster claw

A

Ectrodactyly

45
Q

More than 5 digits

A

Polydactyly

46
Q

Overlapping digits

A

Clinodactlyly

47
Q

Persistent abnormal inversion of the foot perpendicular to the lower leg

A

Club foot or talipes

48
Q

Prominent heel and convex sole

A

Rocker bottom feet

49
Q

Complex lesions with or without calcifications
Can become large
Polyhydramnios

50
Q

Shortening of prox segments

A

Rhizomelia

Ob Hagen (2 decks)

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