Dysmorphology-Lecture 9/2/21

Question 1

Dysmorphology

Answer 1

Study of the abnormal form

Question 2

Microcephalic

Answer 2

Abnormally small head around the forehead

Question 3

Macrocephaly

Answer 3

Abnormally big head

Question 4

Docelocephaly

Answer 4

Abnormally long head

Question 5

Bachiocephaly

Answer 5

Flat face

Question 6

Phagiocephaly

Answer 6

Flat side of the head, maybe from laying on one side

Question 7

Hair dysmorphias

Answer 7

Double hair whorl, low posterior hair line, High/low anterior hair line

Question 8

Bitemporal narrowing

Answer 8

Narrow forehead

Question 9

Frontal bossing

Answer 9

Bilateral bulging of the lateral aspects of the forehead

Question 10

Micrognathia

Answer 10

Small chin

Question 11

Retrognathia

Answer 11

Chin behind the plane of the face

Question 12

Periorbital region

Answer 12

Should be evenly spaced between palpebral fissure length and inner canthal length

Question 13

Palpebral fissure

Answer 13

When the eye is open, outside formed by eyelid margins

Question 14

Telecanthus

Answer 14

Increases distance between medial canthi

Question 15

Hypertelorism

Answer 15

Increased inter-pupillary distance

Question 16

Slant of palpebral fissures

Answer 16

Can be upslant or downslant, angle formed by a line

Question 17

Microcia

Answer 17

Small or malformed ears that can lead to hearing loss if no canal

Question 18

Low set ears

Answer 18

Set below the line between canthi and occipital protuberance

Question 19

Philtrum

Answer 19

The space between the moth and nose

Question 20

Bifid uvula

Answer 20

More than one uvula

Question 21

Clinodactyly

Answer 21

A digit that is laterally curved in the plane of the palm

Question 22

Syndactyly

Answer 22

A soft tissue continuity on the A/P axis between two fingers that extends dismally

Question 23

Why look for minor anomalies?

Answer 23

The more minor anomalies you find, the more likely a major anomaly is present

Question 24

Malformation

Answer 24

Poor formation of the tissue (etc cleft lip, spina bifida). More likely to have a genetic component

Question 25

Deformation

Answer 25

Unusual forces on normal tissue ex (club foot, potter’s facies, overlapping toes)

Question 26

Disruption

Answer 26

Breakdown of normal tissue due to environmental disturbance ex (oligodactyly amniotic bands, intestinal atresia, cleft palate)

Question 27

Dysplasia

Answer 27

Abnormal organization of cells into tissues ex: poly cystic kidney disease, arachnodactyly, pectins excavating, skeletal dysplasia

Question 28

Sequence

Answer 28

Cascade effects from single known anomaly or mechanical factor Ex mandibuar hypoplasia leads to posterior displacement tongue, leads to posterior U shaped cleft palate

Question 29

Syndrome

Answer 29

Multiple anomalies stemming from one pathogenic source (ex: MArfans)

Question 30

Association

Answer 30

Non-random occurrence of multiple anomalies that cannot be explained by chance that has no known genetic cause

Question 31

Teratogens

Answer 31

An exposure during a pregnancy that has a harmful fetal effect

Question 32

Congenital Cytomegalovirus

Answer 32

Often asymptomatic mother in pregnancy, causes macrocephaly, intracranial calcifications, sensorineural hearing loss, rash, low birth weight

Question 33

Teratogens to know (6)

Answer 33

``` CMV (cytomegalovirus) Rubella Thalidomide Fetal alcohol syndrome Warfarin Acutane ```

Question 34

Teratogen types (7)

Answer 34

- Infection - Mediations - Drugs of abuse - Heavy metals - External agents - Maternal conditions - Procedures

Question 35

Thalidomide exposure

Answer 35

Anti-nausea given in the 50s and leads to malformed limbs

Question 36

Fetal alcohol syndrome

Answer 36

Macrocephaly, Smooth philtrum, thin upper lip, micrognathia, palpebral fissures, minor ear abnormalities, low IQ

Question 37

Acutane

Answer 37

35% have major malformations including conotruncal heart defects, cranial nerve palsies, absence of cerebellum vermis, moderate to severe ID 25% with no malformations have ID

Question 38

Major Anomalies

Answer 38

Anomalies that affect function (cleft lip/palate, congenital heart disease, neural tube defects, omphalocele, microcia etc)

Question 39

Minor anomalies

Answer 39

Generally cosmetic, more minor anomalies increases chance of major (Epicanthal folds, hypo-hypertelorism, Palpebral shape/slant, flat or prominent occipital, Frontal bossing, etc)

Question 40

Association

Answer 40

Non-random occupancy of multiple anomalies that cannot be explained by chance, no identified genetic cause

Question 41

VACTERL

Answer 41

Vertebral anomalies, cardiac anomalies, tracheoesophageal anomalies, esophageal atresia, renal anomalies, radial dysplasia, limb anomalies