paediatric genetics Flashcards Preview

paediatrics > paediatric genetics > Flashcards

Flashcards in paediatric genetics Deck (21)
Loading flashcards...
1
Q

down syndrome

A

trisomy 21

learning disability
congenital heart disease
hypothyroidism 
immunity 
early onset alzeihmer disease
2
Q

congenital

A

present at birth

genetic or environmental or both

3
Q

multiple congenital anomaly syndromes

A

individually rare
common as a group

syndrome = pattern of clinical features occurring together

4
Q

description of the dysmorphic child

A

position and shape of facial features
hands
growth of child
general features

5
Q

describing head

A

shape
size: macrocephaly, microcephaly
ear position: low set, posteriorly rotated indicated lack of maturity

6
Q

describing eyes

A

hypertelorism (eyes too far apart)- innercanthal distance and inter-pupillary distance increased

telecanthus/epicanthic folds
-ICD and IPD increased

7
Q

hand measurements

A

finger length
digital abnormalities
palmar creases

8
Q

finger descriptions

A

arachnodactyly

brachydactyly - short fat fingers

9
Q

malformation

A

can occur by itself or part of a syndrome

10
Q

polysyndactyly

A

malformation

too many fingers and some are stuck together

11
Q

acrocephalopolysyndactyly

A

Greig’s syndrome

tall forehead
polydactyly
syndactyly

12
Q

sequence

A

one abnormality leads to another, can have multiple causes

13
Q

pierre-robin sequence

A

small chin which progresses to cleft palate

14
Q

deformation and disruption

A

pattern of development normal to start with but becomes abnormal

deformation: organ parts are there
disruption: parts of organ/body part absent
e. g. amniotic bands

15
Q

association

A

2 or more features occur together more often than expected by chance

16
Q

association example: VATER syndrome

A

vertebral anomalies
ano-rectal atresia
tracheo-oesophageal sphincter
radial anomalies

17
Q

syndrome

A

a distinct group of symptoms and signs which, associated together, form a characteristic clinical picture or entity

18
Q

turner syndrome

45, X

A
lymphoedema 
increased carrying angle
low hairline 
sandal gap 
short stature
coarctation of aorta
hypothryiodism 
htn 
primary amenorrhoea + infertility
19
Q

genetic investigation of learning disability

A

microarray - chromosome number
fragile X gene
targetted test driven by phenotype

trio based exome or trio based genome analysis

20
Q
22q11 deletion
(DiGeorge)
A
cardiac defects
abnormal facies
thymic hypoplasia
cleft palate
hypocalcaemia
21
Q

importance of phenotyping

A

key to assessment of clinical relevance is phenotype

why accurate description of clinical features is important