Approach to the Patient With Multiple Congenital Abnormailities

Question 1

Dysmorphology

Answer 1

Term used to describe variability in both normal and abnormal physical traits

Question 2

Malformations due to

Answer 2

Intrinsically abnormal developmental process

Question 3

When do malformations often occur

Answer 3

Embryologic development (Prior to Week 8)

Question 4

What can cause malformatiosn

Answer 4

Genetic or environmental forces

Question 5

Synpolydactyly

Answer 5

Extra fingers, toes, with some fused together

Mutations to homeobox of HOXD13 gene

Question 6

Retinoic acid can cause

Answer 6

Malformations such as Hydrocephalus

Metabolite of vitamin A

Question 7

Molecular mechanisms involved in major malfomrations

Answer 7

Apoptosis, abnormal signaling, chromatin modeling

Question 8

Infants with how many minor malformations at greater risk for major/syndrome

Answer 8

3 or more

20-25%

Question 9

Deformations caused by

Answer 9

Extrinsic intrauterine mechanical forces

Question 10

Fatal fetal compression a result of

Answer 10

A deformation

Question 11

Example of forces of deformations

Answer 11

Decreased amniotic fluid, uterine tumors, uterine malformations

Question 12

Deformations also caused by

Answer 12

Uterine corowing if multiple gestations

Question 13

ABS

Answer 13

Amniotic band syndrome

Group of structural abnormalities mostly in limbs but also sometimes in craniofacial area

Question 14

Amniotic bands are

Answer 14

Fibrous bands that can constrict fetal parts

Question 15

Dysplasias

Answer 15

Abnormal organization of cells in tissues

Question 16

Achondroplasia

Answer 16

Dwarfism
Example of a dysplasia
Unusual bone growth
Cause by mutation in fibroblast growth factor receptor 3 gene

Question 17

Common deformations

Answer 17

Club foot, plagiocephaly

Question 18

Syndrome

Answer 18

Pattern of anomalies that occur together and are pahtogenetically related

Question 19

Turner syndrome

Answer 19

Monosomy of X chromosome

Short stature, webbed neck, swollen hands and feet

Question 20

Marfan syndrome - inhertiance and mechanism

Answer 20

Auto dominant
Mutations of FBN 1 gene
FBN1 encodes fibrillin 1…fibrillin 1 is a glycoprotein important for maintaining structural intergrity of conective tissue

Question 21

Sequences

Answer 21

Pattern of anomalies in which a single defect in development causes a cascade of abnormalities

Question 22

Potter sequence

Answer 22

Caused by oligohydramniois secondary to renal anomalies

Question 23

Result of potter sequence

Answer 23

Restricts movement so flat face, depression of nasal tip, abnormal ear folding, wrinkled skin, and malposition of feet

Question 24

What is associated with Potter sequence

Answer 24

Decreased urine output
Oligohydramnios (could also be from renal agenesis)
Pulmonary hyperplasia

Question 25

Developmental field defect

Answer 25

Pattern of anomalies caused by disturbance of a region of embryo that develps in a contiguous physical space

Question 26

Holoprosencephaly

Answer 26

Developmental field defect
Most common cause is a defect in induction of prechordal mesodern

Craniofacial structures and forebrain function affected

Question 27

Associations

Answer 27

2 or more anomalies NOT pathogenetically related but occur together more often than by chance

Question 28

Example of association

Answer 28

VACTERL

Question 29

History of patient with multiple abnormalties should include

Answer 29

Medical and obstetric history
4 generation family history and pedigree including age
Ethnic origin

Question 30

When should chromosome studies be carried out

Answer 30

One or more major 
Three or more minor 
Suspect chromosomal disorder 
Unexplaind interllecutal disability
Ambig genitalia 
Growth retardation/failure ot thriive 
Family history