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Critical Care 2 > Exam 3, deck 2 > Flashcards

Exam 3, deck 2 Flashcards

1
Q

the study of congenital malformations and the recognition of patterns of malformations that occur in syndromes

A

Dysmorphology

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2
Q

condition in which head shape is shortened from the front to the back along the sagittal plane; the skull is rounder than normal

A

Brachycephaly

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3
Q

The lateral or medial angle of the eye formed by the junction of the upper and lower lids

A

Canthus

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4
Q

The fleshy tissue of the nose that separates the nostrils

A

Columella

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5
Q

Bony midline prominence of the brows

A

Glabella

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6
Q

The lateral flaring of the nostrils

A

Nasal alae

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7
Q

groove that extends from the margin of the nasal alae to the lateral aspects of the lips

A

nasolabial fold

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8
Q

increased distance between the pupils of the two eyes

A

Ocular hypertelorism

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9
Q

The shape of the eyes based on the outline of the eyelids

A

Palpebral fissure

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10
Q

The vertical groove in the midline of the face between the nose and the upper lip

A

Philtrum

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11
Q

Condition in which head shape is asymmetric in the sagittal or coronal planes; can result from asymmetry in the suture closure or from asymmetry of brain growth

A

Plagiocephaly

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12
Q

condition in which the head is elongated from front to back in the sagittal plane; most normal skulls are _________

A

Scaphocephaly
Scaphocephalic

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13
Q

Eyebrows that meet in the midline

A

Synophrys

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14
Q

A wide space between the medial canthi

A

Telecanthus

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15
Q

condition of having short digits

A

Brachydactyly

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16
Q

condition in which a digit is bent or fixed in the direction of flexion (trigger finger type appearance)

A

Camptodactyly

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17
Q

condition in which a digit is crooked and curves toward or away from adjacent digits

A

clinodactyly

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18
Q

an unusually small nail on a digit

A

hypoplastic nail

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19
Q

suffix meaning limb

A

melia
brachymelia - short limb
amelia - missing limb

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20
Q

the condition of having 6 or more digits on an extremity

A

polydactyly

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21
Q

the condition of having two or more digits at least partially fused (can involve any degree of fusion from webbing of skin to full bony fusion of adjacent digits

A

syndactyly

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22
Q

clinically significant abnormalities in either form or function that are identifiable at birth

A

congenital malformations

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23
Q

a spectrum of abnormalities including malformations, deformations, deformations and disruptions that result from the effects of a single malformation

A

malformation sequence

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24
Q

a primary malformation, the failure of growth of the mandible during the first weeks of gestation results in micrognathia which forces the normal sized tongue into an unusual position. This blocks the fusion of the palatal shelves causing a U shaped cleft palate. After delivery the normal sized tongue in smaller than normal sized oral cavity leads to airway obstruction which can be life threatening

A

Pierre Robin Sequence

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25
Q

triad of features in Pierre Robin sequence

A

micrognathia
U shaped cleft palate
obstructive apnea

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26
Q

Pierre robin sequence is an example of what genetic issue

A

malformation sequence

27
Q

Individuals with Pierre Robin sequence may have it as a part of _______ syndrome

A

Stickler syndrome (AD disorder)

28
Q

arise as a result of environmental forces acting on normal structures. They occur later in pregnancy or after delivery

A

Deformations

29
Q

rhomboid shaped head

A

plagiocephaly

30
Q

Plagiocephaly may result from intrauterine positioning or from torticollis experience in the newborn period. This is an example of __________

A

deformation

31
Q

Deformations often resolve with minimal intervention but ______ often require surgical and medical management

A

malformations

32
Q

variants of normal that occur in less than 3% of the population including findings such as transverse palmar creases, low set ears or ocular hypertelorism (wide spaced eyes). When isolated, no clinical significance

A

minor malformations

33
Q

the recognizable pattern of anomalies that result from a single identifiable underlying cause.

A

multiple malformation syndrome

34
Q

A ______ differs from a syndrome in that in the former, no single underlying etiology explains the recognizable pattern of anomalies that occur together more often than would be expected by chance alone

A

association

35
Q

VACTERL association
what does this stand for

A

Vertebral anomalies
anal atresia
cardiac defects
tracheoesophageal fistula
renal anomalies
limb anamalies

36
Q

infants born breech are more likely to have congenital ______ then born from vertex

A

malformations

37
Q

As a woman gets older, there is increased risk of ______leading to trisomies

A

nondisjunction

38
Q

An increased amount of amniotic fluid may be associated with what problems or anomalies

A

intestinal obstruction or CNS anomaly that leads to poor swallowing

39
Q

An decreased amount of amniotic fluid may be associated with what problems or anomalies

A

chronic amniotic fluid leak or point to a Urinary tract abnormality that results in a failure to produce urine

40
Q

Larger than expected size at birth may suggest an ______ syndrome such as

A

overgrowth syndrome
Sotos
Beckwith-Wiedemann syndrome
or maybe a diabetic mother

41
Q

If the child is proportionate. Limbs that are too short for the head and trunk imply the presence of

A

a short-limbed bone dysplasia such as Achondroplasia

42
Q

a trunk and head that are too short for the extremities suggest a disorder affecting the vertebrae such as

A

spondyloepiphyseal dysplasia

43
Q

long and thin head shape

A

dolichocephalic

44
Q

short and wide head shape

A

Brachycephalic

45
Q

asymmetrical or lopsided head shaped

A

plagiocephalic

46
Q

overt prominence of forehead

A

achondroplasia

47
Q

part of face that extends from the eyebrows to the upper lip and from the outer canthi of the eyes to the commissures of the mouth

A

midface

48
Q

distance between eyes

A

inner canthal distance

49
Q

eyes that are too close together

A

hypotelorism

50
Q

eyes that are too far apart

A

hypertelorism

51
Q

short stature
intellectual disability
long palpebral fissures with eversion of lateral portion of lower lid

A

Kabuki syndrome

52
Q

region of face that extends from ear to midface

A

malar region

53
Q

low set ears are below a line drawn from the ____ ____ to the ______

A

outer canthus to the occiput

54
Q

Posterior rotation of ears

A

means they are turned toward the rear of head

55
Q

ears may be low set because

A

they are small (or microtic) or because
of a malformation of the mandibular region

56
Q

region from the lower portion of the ears bounded out to the chin by the mandible

A

Mandibular region

57
Q

when the chin is said to be slightly retruded, what does that mean

A

slightly behind the vertical line extending from the forehead to the philtrum

58
Q

upward obliquity (slant) of the palpebral fissures seen in ______ and downward is seen in ?

A

Down syndrome
Treacher collins syndrome

59
Q

neck webbing is a common feature seen in what two syndromes

A

Turner
Noonan

60
Q

shield like chest is seen in what two syndromes

A

Turner
Noonan

61
Q

Pectus deformity is common in what syndrome

A

Marfan

62
Q

an inability to pronate or supinate the elbow is called what and occurs in

A

Radioulnar synostosis
fetal alcohol syndrome
X chromosome aneuploidy syndromes

63
Q

Polydactyly is seen in what trisomy

A

13

64
Q

Oligodactyly is seen in

A

fanconi anemia

Critical Care 2 (14 decks)

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