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OBGYN > Neural tube/musculoskeletal with pathology registry review > Flashcards

Neural tube/musculoskeletal with pathology registry review Flashcards

1
Q

Neural tube defects

A

Neural tube fails to close or form properly

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2
Q

Risk factors for NTD

A

Maternal diabetes, valproic acid (seizure meds), folate deficiency

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3
Q

Folic acid

A

Supplement taken to reduce risk of anencephaly and spina bifida

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4
Q

Marker for open defects

A

Elevated AFP

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5
Q

Acrania

A

Absence of cranial vault above the orbits. Can be with or without brain. “Without cranium”
*elevated AFP

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6
Q

Anencephaly

A

No cerebral hemispheres, frog like bulging eyes

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7
Q

Exencephaly

A

Normal amount of brain tissue/no skull. Will appear as misshapen head with no hyperechoic bone surrounding head.

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8
Q

Spina bifida

A

Neural tube fails to close and there is a gap between the vertebrae/splaying of the vertebral laminae.
*aka spinal dysraphism/meningocele/myelomeningocele

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9
Q

Spina bifida occulta

A

CLOSED
Covered by skin and no herniation of spinal cord outside of body, defect in vertebrae only
*normal AFP

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10
Q

Postnatal signs for spina bifida occulta

A

Sacral dimple, lipoma, excessive hair

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11
Q

Spina bifida aperta

A

OPEN
-Most common form of spina bifida
-Not covered by skin and result in herniation of spinal contents (cystica)
*ELEVATED AFP, strongly associated with Arnold-Chiari II malformation

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12
Q

Meningoceles

A

Contain meninges only
*cystic appearance

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13
Q

Myelomeningocele

A

Contains meninges and nerve roots, more complex in appearance. Most commonly in lumbosacral area
*MOST common

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14
Q

Arnold-Chiari II malformation

A

-Presence of open spina bifida
-Meningocele or myelomeningocele pulls down on spinal contents causing cranial malformations
-Lemon shaped head
-Banana cerebellum
-Obliterated cisterna magna

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15
Q

Cephalocele/Encephalocele

A

-Herniation of intracranial contents through opening in skull
-Most common in occipital location
-Associated with Meckel-Gruber (occipital cephalocele and PKD)
*ABNORMAL AFP

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16
Q

Iniencephaly

A

Hyperextension of neck. Closed NTD
“star gazer”
*Possible normal AFP

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17
Q

Ocular diameter

A

Lateral to medial edge of orbit
*Axial plane

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18
Q

Interocular

A

Between the 2 eyes. Medial (inner) sides of both

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19
Q

Binocular

A

Lateral edged of both orbits, both eyes

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20
Q

Anopthalmia

A

No orbits
*associated with T13

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21
Q

Cyclopia

A

One fused eye
*associated with T13

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22
Q

Hypertelorism

A

Closely spaced eyes (decreased interocular)
*associated T13

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23
Q

Hypertelorism

A

Far apart (increased interocular) anterior cephalocele

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24
Q

Micropthalmia

A

Small orbits (decreased ocular)

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25
Q

Proboscis

A

False nose/projection replacing or above nose
*often seen with eye abnormalities

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26
Q

Cleft lip and palate

A

Abnormal/incomplete closure of lip and/or palate
-Can be unilateral, bilateral, midline or eccentric
-May be isolated or associated with holoprosencephaly and T13(midline), and amniotic band syndrome (asymmetrical)
-Evaluated in coronal view of lips, nose, chin

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27
Q

Nuchal thickening

A

> or equal to 6mm measurement of nuchal fold between 18-23 weeks
*trisomy 21

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28
Q

Flattened or absent nasal bone

A

May be normal in some individuals based on ethnicity
-ML sagittal view
*“soft marker” for trisomy 21

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29
Q

Macroglossia

A

Large tongue/protuberance of tongue
-ML sagittal view tongue sticking out
*associated with T21
*if isolated, associated with Beckwith-Wiedemann syndrome

30
Q

Micrognathia

A

Small mandible and recessed chin
-ML sagittal view
*associated with T18

31
Q

Cystic hygroma

A

Abnormal accumulation of lymphatic fluid under the skin. Most common within neck but may be in axilla
-Often leads to hydrops
*turners syndrome

32
Q

Hydrops fetalis

A

A condition in which large amounts of fluid build up in a baby’s tissues and organs, causing extensive swelling (edema).

33
Q

Sonographic appearance of cystic hygroma

A

Cystic mass behind neck with midline septation
-Sagittal view: bubble appearance
-Transverse view: cystic with midline septations

34
Q

Axial skeleton

A

Cranial and spinal bones

35
Q

Appendicular skeleton

A

Bones of the limbs and pelvis

36
Q

Normal bones sonographic appearance

A

Hyperechoic with posterior shadowing

37
Q

Long bone measurements

A

Sagittal plane with beam close or at perpendicular (90 degrees) to axis. Calipers include entire shaft (diaphysis), no epiphysis should be included in measurement
*femur and humerus (proximal limbs)

38
Q

Leg imaging and biometry

A

Normal ankle/foot relationship in sagittal to rule out club foot
-Tibia (closer to skin and more medial in coronal view)
-Fibula

39
Q

Forearm imaging and biometry

A

Hands should open and move freely
-Radius (thumbside/shorter)
-Ulna (pinky side/longer/goes to elbow)

40
Q

VACTERL

A

V: vertebral defect
A: anorectal atresia
C: cardiac defects
T: tracheoesophageal fistula
E: esophageal atresia
R: renal anomalies
L: limb defects

41
Q

VACTERL association

A

At least three defects make up the association. If one is detected CAREFULLY examine for others

42
Q

Scoliosis

A

Abnormal curvature laterally or S-shaped spine

43
Q

Kyphosis

A

Abnormal posterior curvature

43
Q

Musculoskeletal curvature

A

Associated with amniotic band, limb body wall complex and VACTERL

44
Q

Limb-body wall complex

A

Fatal condition caused by vascular occlusion, amnion rupture, or embryonic dygenesis. Appears as if front of abdomen is stuck to placental wall due to very short or absent cord
-AKA body stalk anomaly
-ELEVATED AFP
-Body wall defects, limb defects, craniofacial defects, marked scoliosis

45
Q

Achondroplasia

A

Without bone/cartilage growth “dwarfism”

46
Q

Heterozygous achondroplasia

A

Autosomal dominant
*MOST common NON lethal dysplasia

47
Q

Homozygous achondroplasia

A

Autosomal recessive
*FATAL

48
Q

Achondroplasia findings

A

Macrocrania, frontal bossing, trident hand, rhizomelia

49
Q

Frontal bossing

A

Prominent forehead

50
Q

Trident hand

A

Space between 3rd and 4th digits

51
Q

Rhizomelia

A

Proximal limbs are much shorter than distal

52
Q

Achondrogenesis

A

Rare, LETHAL condition
Absent mineralization/ossification of bones, especially pelvis, spine and cranium
-No shadowing, micromelia, fratures, polyhydramnios
-Without bone/cartilage development/formation

53
Q

Micromelia

A

Rare bone dysplasia that causes abnormally short and underdeveloped limbs

54
Q

Osteogenesis imperfecta

A

Brittle bone disease, results in multiple fractures in utero and under-ossified bones
-Soft skull=compressible cranium with probe pressure
*Type II FATAL
*Type I, II, IV diagnosed after birth and compatible with life

55
Q

Thanatophoric dysplasia

A

Abnormal shaped bone growth. Death secondary to pulmonary hypoplasia
*MOST common LETHAL dysplasia

56
Q

Thanatophoric dysplasia findings

A

Cloverleaf skull, bell shaped chest, bowed long bones

57
Q

Craniosynostosis

A

Premature fusion of the cranial sutures
*cloverleaf skull

58
Q

Caudal regression syndrome

A

Absence of sacrum and coccyx. Defects in lumbar spine and lower limbs.
-AKA sacral agenesis
*strong association with uncontrollable maternal (pre gestational) diabetes/ diabetes mellitus

59
Q

Sirenomelia

A

Fusion of lower extremities
-Mermaid syndrome
-May be accompanied by renal agenesis
*FATAL when accompanied by renal agenesis

60
Q

Sacrococcygeal teratoma

A

Germ cell tumor seen as complex mass extending posteriorly and inferiorly from distal spine
-More common in females
-Malignant potential

61
Q

Talipes equinovarus

A

Medial inversion of foot, bottom of foot and metatarsals appear in the same plane as the tibia and fibula
-AKA clubfoot
*association with T13

62
Q

Rockerbottom

A

Rounded bottom of foot, normal foot/ankle angle
*association with T18

63
Q

Sandal gap

A

Space between big toe and 2nd digit

64
Q

Thrombocytopenia absent radius

A

Absent radius, hypoplastic ulna, missing thumb
-AKA: radial ray defect, TAR syndrome

64
Q

-dactyly

A

Digits

65
Q

Polydactyly

A

Too many digits
*associated with T13

66
Q

Clinodactyly

A

Clenched digits
*associated with T18

67
Q

Syndactyly

A

Fused digits
*Associated with triploidy

68
Q

Clino-

A

Clenched

69
Q

Syn-

A

Fused

70
Q

Amniotic band syndrome

A

Sticky bands of amnion result from rupture of the amnion. Fetal parts can be caught and cause amputations and odd facial clefts
-May see damage or may see fetal limbs stuck in membrane

OBGYN (17 decks)

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