Exam 3, deck 2

Question 1

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

Answer 1

Dysmorphology

Question 2

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

Answer 2

Brachycephaly

Question 3

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

Answer 3

Canthus

Question 4

The fleshy tissue of the nose that separates the nostrils

Answer 4

Columella

Question 5

Bony midline prominence of the brows

Answer 5

Glabella

Question 6

The lateral flaring of the nostrils

Answer 6

Nasal alae

Question 7

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

Answer 7

nasolabial fold

Question 8

increased distance between the pupils of the two eyes

Answer 8

Ocular hypertelorism

Question 9

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

Answer 9

Palpebral fissure

Question 10

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

Answer 10

Philtrum

Question 11

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

Answer 11

Plagiocephaly

Question 12

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

Answer 12

Scaphocephaly
Scaphocephalic

Question 13

Eyebrows that meet in the midline

Answer 13

Synophrys

Question 14

A wide space between the medial canthi

Answer 14

Telecanthus

Question 15

condition of having short digits

Answer 15

Brachydactyly

Question 16

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

Answer 16

Camptodactyly

Question 17

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

Answer 17

clinodactyly

Question 18

an unusually small nail on a digit

Answer 18

hypoplastic nail

Question 19

suffix meaning limb

Answer 19

melia
brachymelia - short limb
amelia - missing limb

Question 20

the condition of having 6 or more digits on an extremity

Answer 20

polydactyly

Question 21

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

Answer 21

syndactyly

Question 22

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

Answer 22

congenital malformations

Question 23

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

Answer 23

malformation sequence

Question 24

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

Answer 24

Pierre Robin Sequence

Question 25

triad of features in Pierre Robin sequence

Answer 25

micrognathia U shaped cleft palate obstructive apnea

Question 26

Pierre robin sequence is an example of what genetic issue

Answer 26

malformation sequence

Question 27

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

Answer 27

Stickler syndrome (AD disorder)

Question 28

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

Answer 28

Deformations

Question 29

rhomboid shaped head

Answer 29

plagiocephaly

Question 30

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

Answer 30

deformation

Question 31

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

Answer 31

malformations

Question 32

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

Answer 32

minor malformations

Question 33

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

Answer 33

multiple malformation syndrome

Question 34

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

Answer 34

association

Question 35

VACTERL association what does this stand for

Answer 35

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

Question 36

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

Answer 36

malformations

Question 37

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

Answer 37

nondisjunction

Question 38

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

Answer 38

intestinal obstruction or CNS anomaly that leads to poor swallowing

Question 39

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

Answer 39

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

Question 40

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

Answer 40

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

Question 41

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

Answer 41

a short-limbed bone dysplasia such as Achondroplasia

Question 42

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

Answer 42

spondyloepiphyseal dysplasia

Question 43

long and thin head shape

Answer 43

dolichocephalic

Question 44

short and wide head shape

Answer 44

Brachycephalic

Question 45

asymmetrical or lopsided head shaped

Answer 45

plagiocephalic

Question 46

overt prominence of forehead

Answer 46

achondroplasia

Question 47

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

Answer 47

midface

Question 48

distance between eyes

Answer 48

inner canthal distance

Question 49

eyes that are too close together

Answer 49

hypotelorism

Question 50

eyes that are too far apart

Answer 50

hypertelorism

Question 51

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

Answer 51

Kabuki syndrome

Question 52

region of face that extends from ear to midface

Answer 52

malar region

Question 53

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

Answer 53

outer canthus to the occiput

Question 54

Posterior rotation of ears

Answer 54

means they are turned toward the rear of head

Question 55

ears may be low set because

Answer 55

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

Question 56

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

Answer 56

Mandibular region

Question 57

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

Answer 57

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

Question 58

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

Answer 58

Down syndrome Treacher collins syndrome

Question 59

neck webbing is a common feature seen in what two syndromes

Answer 59

Turner Noonan

Question 60

shield like chest is seen in what two syndromes

Answer 60

Turner Noonan

Question 61

Pectus deformity is common in what syndrome

Answer 61

Marfan

Question 62

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

Answer 62

Radioulnar synostosis fetal alcohol syndrome X chromosome aneuploidy syndromes

Question 63

Polydactyly is seen in what trisomy

Answer 63

13

Question 64

Oligodactyly is seen in

Answer 64

fanconi anemia