GN 1.3.1

Question 1

What are some of the etiologies of abnormal development?

Answer 1

Chromosomal, Single Gene, Multifactorial, Environment, Epigenetic

Question 2

What is the multiple congenital anomaly: syndrome?

Answer 2

a primary developmental anomaly of two or more systems due to a common etiology

Question 3

What is the clinical term for a birth defect?

Answer 3

Congenital Anomaly

Question 4

What is a good approach to gathering the genetic history of a family?

Answer 4

Creating a pedigree

Question 5

What are the three types of multiple congenital anomalies?

Answer 5

Syndrome, Sequence, Association

Question 6

Disruption?

Answer 6

Outside force leading to the breakdown of normal tissue

Question 7

What is the multiple congenital anomaly: association?

Answer 7

a non-random recurring pattern of malformation with no defined etiology

Question 8

What are the two categories that influence phenotypic expression?

Answer 8

Hereditary (Dysmorphology) & Environment (Teratology)

Question 9

What are three important measures of growth during data collection?

Answer 9

Height, Weight, Head Circumference

Question 10

Malformation?

Answer 10

abnormal formation of tissue from the beginning

Question 11

What are the causes of malformation, deformation, and disruption?

Answer 11

Malformation: abnormal formation of tissue
Deformation: unusual forces on tissue
Disruption: breakdown of normal tissue

Question 12

What is dysmorphology?

Answer 12

The study of abnormal morphogenesis, abnormal physical development, congenital anomalies, and syndromes

Question 13

Name the example of the sequence anomaly given in class.

Answer 13

Pierre Robin sequence

Question 14

During the examination phase of data collection, what are the four methods of examination?

Answer 14

Observe, Measure, Quantitate, Photograph

Question 15

What are the three types of problems with morphogenesis?

Answer 15

Malformation, Deformation, Disruption

Question 16

What types of disorders typically arise from maternal or paternal reproductive issues?

Answer 16

Maternal: non-disjunction events
Paternal: increased risk of dominant dz (older age)

Question 17

What are the two main types of disruptions?

Answer 17

Vascular disruption and early amnion rupture

Question 18

When examining morphological changes, what is the most common dysmorphology of ears?

Answer 18

Low set (superior portion of ear below plane created by the outer caruncle)

Question 19

What are the steps in approaching congenital anomalies?

Answer 19

1) Collect Data
2) Differential Diagnosis
3) Lab and Imaging studies
4) Analysis
5) Additional testing, if needed
6) Definitive Diagnosis, if possible
7) Counseling and Intervention

Question 20

Deformation?

Answer 20

unusual forces on tissue that causes it to grow a different way than normal

Question 21

What are the parts of collecting data?

Answer 21

Family history, growth analysis, examination

Question 22

What are the risks associated with the three phases of prenatal development (period of ovum, embryo, fetus)?

Answer 22

Ovum: lethal
Embryo: major morphological abnormalities
Fetus: functional defects or minor morphological abnormalities

Question 23

What are some concerns that should be addressed with a pedigree?

Answer 23

Paternal ethnicity, Paternal consanguinity, Infertility issues

Question 24

What led the Hapsburg lip and jaw?

Answer 24

Consanguinity

Question 25

What are some common deformations?

Answer 25

Head and neck (cranial molding, mandibular asymmetry)
Limbs
Nerve Compression

Question 26

At the point in time, what is the diagnostic rate of dysmorphologies?

Answer 26

50%

Question 27

What is the multiple congenital anomaly: sequence?

Answer 27

a pattern of malformations due to a cascading effect from a single minor alteration early in morphogenesis

Question 28

What is the condition that is caused by vascular disruption, which leads to underdevelopment of one side of the face?

Answer 28

OAV (oculoauriculovertebral spectrum)