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dms 242: advanced ob/gyn > Fetal Skeletal System Abnormalities > Flashcards

Fetal Skeletal System Abnormalities Flashcards

1
Q

What is amelia?

A

absence of one or more limbs

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2
Q

What is acromelia?

A

foreshortening of the bones of hand and feet

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3
Q

What is rhizomelia?

A

shortening of the proximal bones of the extremity

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4
Q

What is mesomelia?

A

shortening of the distal long bones of the extremity

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5
Q

What is micromelia?

A

shortening of both segments of the extremity

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6
Q

What is phocomelia?

A

absence of the long bone segments of an extremity so hand/foot arises from the shoulder/hip

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7
Q

What is hemimelia?

A

absence of a longitudinal segment of a limb (ex: radial aplasia, radial hypoplasia)

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8
Q

What is acheira?

A

absence of the hands

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9
Q

What is apodia?

A

absence of a foot or feet

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10
Q

What is acheiropodia?

A

absence of hands and feet

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11
Q

How many bones does each finger have? name them.

A

3 bones: proximal, middle, and distal phalanx

-thumb has two bones; proximal and distal phalanx

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12
Q

What is adactyly?

A

the congenital absence of fingers or toes

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13
Q

What is polydactyly?

A

more than 5 digits (more than 5 fingers or toes per hand or foot)

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14
Q

What is syndactyly?

A
  • fusion of digits, tissue and or bone

- one of the most common congenital malformations of the limbs

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15
Q

What are the classifications of syndactyly that describe the severity?

A
  • Simple syndactyly: involves soft tissue only and is classified as partial and complete
  • Complex syndactyly: involves fusion of soft tissue and bone of adjacent digits
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16
Q

What is clinodactyly?

A

abnormal curvature of 4th and 5th digits following the angle of the palm of the hand (a radial angulation of a digit-typically involving the 5th finger, but can involve any or all digits)

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17
Q

What is ectrodactyly?

A
  • lobster claw hand (split hand or foot malformation)
  • a genetic disorder characterized by the complete or partial absence of some fingers or toes combined w/ clefts in the hands or feet resulting in a claw-like appearance
  • may be isolated or may occur as a component of a syndrome w/ other malformations and characteristics
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18
Q

What is hitchhiker’s thumb?

A

refers to the hyperextension of the distal interphalangeal joint of the thumb. Seen in the diastrophic dysplasia.

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19
Q

What is diastrophic dysplasia?

A
  • a rare disorder characterized by micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, earlobe deformities, and hand abnormalities.
  • inherited in an autosomal recessive pattern, and the mutation has been mapped to the long arm of chromosome 5
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20
Q

What is a sandal gap?

A

excessive gap between the 1st and 2nd toe

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21
Q

What is a trident hand?

A

excessive gap between the 3rd and 4th fingers

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22
Q

What is rocker bottom foot (vertical talus)?

A

a congenital anomaly of the foot characterized by a prominent heel and a convex rounded sole

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23
Q

What is the ideal time for treatment for rocker bottom foot?

A

after 6 months but before the age of two

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24
Q

What happens if rocker bottom foot is left untreated?

A

painful skin conditions such as calluses (thick skin) an d possible skin ulcers can develop

25
Q

What does surgery involve for treating rocker bottom foot?

A

realigning the bones and inserting pins to keep them in place

26
Q

What is hammer toe and it’s cause?

A
  • a deformity in which one or more toes bend downward instead of pointing forward
  • may be congenital, but usually occurs over time due to wearing ill-fitting shoes, high heels or arthritis
27
Q

What is hypoplasia of the thumb and great toes?

A

mild bilateral shortening of the distal phalanges and/or the first metacarpal or metatarsal

28
Q

What is talipes equinovarus (clubfoot)?

A
  • malformation of the bones of the foot; foot is most often inverted and rotated medially
  • affected foot appears rotated internally at the ankle with eccentric between the calcaneus and tarsal bones
  • 50% bilateral
  • occurs in males more often than females
  • associated with spina bifida
29
Q

What is the cause of talipes?

A

-majority is idiopathic and an isolated finding

30
Q

What is associated with talipes equinovarus (clubfoot)?

A

spina bifida

31
Q

How is a diagnosis of clubfoot (talipes equinovarus) made?

A

may be made with a persistent abnormal inversion of the foot perpendicular to the lower leg

32
Q

What is the best way to evaluate clubfoot in ultrasound?

A

identifying a sagittal view of the lower leg

33
Q

How is the sonographic diagnosis of clubfoot made?

A

can be made when the metatarsals or the bottom of the foot lie in the same plane as the tibia and fibula
-it is important to see the deformity in multiple views with deferent positions of the extremity

34
Q

What does dysplasia mean?

A

the abnormal development of a structure

35
Q

*What is skeletal dysplasia?

A

term used to describe abnormal growth and density of cartilage and bone

36
Q

How many types of skeletal dysplasias have been identified?

A

more than 271

37
Q

What are the 4 most common skeletal dysplasias?

A

achondroplasia, achondrogenesis, osteogenesis imperfecta, and thanatophoric dysplasia

38
Q

What is achondroplasia?

A

-results from decreased endochondral bone formation, which produces short, squat bones

39
Q

What is the prognosis of achondroplasia?

A

-depends on the form

40
Q

What is heterozygous achondroplasia?

A
  • an autosomal dominant (inherited from one parent), has a good survival rate w/ normal intelligence and a normal life span
  • health problems may include neurologic complications and rhizomelia
41
Q

*What is the most common non-lethal skeletal dysplasia?

A

*heterozygous achondroplasia

42
Q

What is homozygous achondroplasia?

A
  • inherited from two parents, is considered lethal, with most infants dying shortly after birth from respiratory complications.
  • with this form, sonographic findings are more severe and include a narrow thorax
43
Q

When is rhizomelia typically detected?

A

-not until after 24 wks gestation, when a notable difference in gestational age measurements between the BPD and femur length is detected

44
Q

*When are the sonographic features of achondroplasia evident?

A

-may not be evident until after 22 wks gestation

45
Q

What are the sonographic findings of achondroplasia?

A
  • macrocrania
  • frontal bossing
  • flattened nasal bridge
  • micromelia (resulting from rhizomelia)
  • trident hand
46
Q

What is achondrogenesis?

A

-a rare, lethal condition caused by cartilage abnormalities resulting in abnormal bone formation and absent or hypomineralization of the skeletal bones

47
Q

What are the sonographic findings of achondrogenesis?

A
  • severely shortened limbs (micromelia)
  • absent mineralization of the skull, spine, pelvis, and limbs
  • macrocephaly and micrognathia
  • polyhydramnios
48
Q

*What is osteogenesis imperfecta?

A
  • a rare disorder of collagen production leading to brittle bones
  • commonly known as brittle bone disease, is a group of disorders that results in multiple fractures that can occur in utero
  • 4 different types
49
Q

What do the fractures come from in osteogenesis imperfecta?

A

-a result of decreased mineralization and poor ossification

50
Q

How many types of osteogenesis imperfecta and what is the most severe?

A
  • 4 different types
  • Type II, a uniformly fatal form of osteogenesis imperfecta, is the most severe type
  • Types I, III, and IV are typically diagnosed after birth
51
Q

What are the sonographic findings of osteogenesis imperfecta?

A
  • demineralization of the skull (recognized by a lack of posterior shadowing), transducer pressure can alter the shape of the skull
  • multiple fractures
  • bell shaped chest, the thoracic and abdominal circumference will be remarkably dissimilar leading to a bell-shaped chest
52
Q

*What is thanatophoric (“death bearing”) dysplasia?

A
  • *the most common lethal skeletal dysplasia
  • shortened long bones take on a “telephone receiver” shape, as the diaphysis of the long bones will be bowed and have prominent metaphyseal ends
  • the thoracic and abdominal circumference will be remarkably dissimilar, leading to a bell-shaped chest
  • thorax remarkably narrow, resulting in hypoplasia of lungs, while abdomen appears prominent
  • w/ advancing gestation, redundant soft tissue, especially on limbs, can also be noted
53
Q

What is the best way/view to recognize thanatophoric dysplasia?

A

a sagittal view of the fetus

54
Q

What is the prognosis of thanatophoric dysplasia?

A

fetuses typically die shortly after birth, succumbing most often to respiratory distress as a result of pulmonary hypoplasia

55
Q

What are the sonographic findings of thanatophoric dysplasia?

A
  • cloverleaf skull and macrocephaly
  • hydrocephalus and frontal bossing
  • depressed nasal bridge
  • bell-shaped chest (narrow thorax)
  • extreme micromelia
  • polyhydramnios
  • redundant soft tissue
56
Q

What is radial ray defect?

A
  • the partial to complete absence (aplasia) of the radius or underdevelopment (hypoplasia) of the radius
  • usually associated with abnormalities of the bones in the wrist and thumb
  • radius may be shortened, curved, or absent, often with hand in medial rotation
  • associated with trisomy 13, trisomy 18, amniotic band syndrome, Holt Oram syndrome, and VACTERL syndrome
57
Q

What is Ellen-van Creveld syndrome?

A
  • also known as chondroectodermal dysplasia, is a rare skeletal dysplasia with an increased frequency in the Amish community
  • it is inherited in an autosomal recessive pattern
  • may present with a narrow thorax, causing pulmonary hypoplasia, and heart defects, the most common of which is atrial septal defect
58
Q

What is the most common heart defect of the Ellis-van Creveld syndrome?

A

atrial septal defect

dms 242: advanced ob/gyn (6 decks)

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