Embryology Flashcards

1
Q

What is Marfan Syndrome?

A
  • Bone abnormality
  • connective tissue disorder causing excessive long bone growth
  • LINCOLN
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2
Q

Osteogenesis Imperfecta

A
  • Thin curved bones
  • decreased bone density
  • frequent fractures
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3
Q

Achondroplasia

A
  • Most common form of dwarfism
  • affects long bones
  • random mutation
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4
Q

Acromegaly

A
  • Excess growth hormone AFTER growth plates close
  • large, heavy bones (face, hands, & feet)
  • ANDRE THE GIANT
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5
Q

Gigantism

A
  • Excess growth hormone BEFORE growth plates close

- overall large size

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6
Q

Spina Bifida occulta

A
  • abnormality of spinal development
  • neural tube doesnt close completely = no neural arch
  • tuft of hair at base of spinal column
  • least serious spina bifida
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7
Q

Meningocele

A
  • abnormality of spinal development
  • no neural arch
  • similar to spina bifida occulta but the meninges also escape
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8
Q

Myelomeningocele

A
  • abnormality of spinal development

- both the meninges and nerves exit where there is no neural arch

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9
Q

Klippel Feil Syndrome

A
  • abnormality of spinal development
  • congenital fusion of cervical vertebral bodies
  • short neck (brevicollis)
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10
Q

Hemivertebrae resulting in Scoliosis

A
  • abnormality of spinal development
  • only one ossification center forms in a vertebral body
    = 1/2 vertebrae
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11
Q

Cervical Ribs

A
  • abnormality of spinal development
  • ribs develop in the cervical region
  • puts pressure on important vessels going through neck
  • extra lumbar ribs are more common and clinically silent
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12
Q

Pectus Excavatum

A
  • abnormality of spinal development
  • concave sternum
  • cause unknown
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13
Q

Abnormal Limb Development terms

A
  • Amelia = no limbs
  • Meromelia = partial absence of limbs
  • Phocomelia = hand or foot like appendage connected directly to trunk
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14
Q

Thalidomide babies

A
  • used for morning sickness in 50’s

- babies had no arms

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15
Q

Polydactyly

A
  • extra digits
  • can be fully formed or only connective tissue
  • most common hand anomally
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16
Q

Syndactyly

A
  • failure of apoptosis between fingers

- bones can be fused (less common) or just held together by skin

17
Q

Lobster Claw (Extrodactyly)

A
  • no central digital ray
18
Q

Poland Syndrome

A
  • muscle development abnormality
  • unilateral congenital malformation of absence of pectoralis major
  • often includes ipsilateral webbed hand
19
Q

Prune Belly Syndrome

A
  • problem with muscle dev.
  • poor dev. of ab muscles
  • skin wrinkles
  • undescended testis & urinary tract problems