L1: Approach to a patient

= communication process

• deals with human problems associated with the occurence (or risk of occurence) of a genetic disorder in a family

• attempt by min. 1 appropriately trained person to help the individual or family out (5 goals)

1. comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management

2. appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives

3. understand the alternatives for dealing with the risk of recurrence

4. choose the course of action which seems to them appropriate in view of theri risk, their family goals, and theri ethical and religious standards, and to act in accordance with that decision

5. to make the best possible adjustment to the disorder in an affected family member and/or the risk of the recurrence of that disorder

• (query of) genetic condition in the family

• child with malformations and/or developmental delay

• consanguinous marriage

• mutagenic agents in personal history

• teratogenic agents in pregnancy

• advanced parental age

• recurrent miscarriages

• infertility

• family history

• pregnancy history

• history of the patient

• physical examination

a) male

b) female

c) sex unknown

general: unaffected individual

top) affected

down) affected by min. 2 conditions

1. relationship line

2. line of descent

3. sibship line

4. indicidual’s line

Consanguinity

(if degree of relationship not obvious from pedigree, it should be stated (e.g. 3rd cousins) above the relationship line

1. break in relationship

2. miscarriage

general: no children

A) simply no children

B) no children, but wish for it

1. Malformation (abnormality in genome [developmental genes])

2. Disruption (breakdown of body structure that first developed normally)

3. Deformation (altered shape/position by mech. force)

4. Dysplasia (abnormality in genome [all genetiaclly affected tissues = affected])

• cause: COL3A3 not correctly synthesized

• rupture of arteries

• rupture of organs (intestine, uterus)

• thin, translucent skin

• characteristic facies

A) normal basic (epi)genome

B) abnormal developmental gene(s)

C) abnormal basic (epi)genome

D) normal development

E) abnormal organ development

F) abnormal tissue development

G) destructive influence

H) mechanical influence

1) normal development

2) malformation

3) disruption

4) deformation

5) dysplasia

• syndrome

• sequence

• association

• one malformation in each of the body regions OR two malformations in two body regions

• V = vertebral

• A = anal

• C = cardiac defect

• T = tracheo

• E = Esophageal

• R = renal

• L = limb

• etiology unclear, low likelihood of recurrence, life expectancy depends upon the severity of the defects

• size (measurement)

• shape

• symmetry

• hairline

• distance (hyper-/hypotelorism)

• eyebrows (shape, thickness)

• palpebral fissures

• presentation of midface and lower jaw

• philtrum (length, structure)

• lips (shape, thickness)

• mouth

• shape

• position

• insertion

• shape

• number of fingers/toes

• mobility of fingers/toes

• nails