PhysDi - Clinical Genetics (pics) Flashcards
(61 cards)
1
Q
When should a patient be referred for genetic evaulation?
A
- If they present with a group of specific
clinical features of a known condition - If they have clinical characteristics
suggesting dysmorphic features and/or
cognitive disabilities - If they have a family history of a specific
genetic condition
2
Q
What is the most important component of a medical history in genetics?
A
family history - 3 generations
3
Q
Genetics PMH
A
- childhood illnesses or disabilities (ex: deafness)
- preterm birth or postnatal complications
- growth delay/developmental issues
- hospitalizations
- surgical history (cleft palate, etc)
- major adult illnesses
- cancer history, any prescursor lesions
4
Q
OB history in genetics
A
- intrauterine drug exposure
- prenatal complications
- prenatal testing
- spntaneous abortions, stillbirths
- T.P.A.L: term births, preterm briths, abortions, live briths
5
Q
Why should ethnic and racial background be noted as part of the medical history?
A
certain geographic, ethnic, and racial groups are at relatively high risk for otherwise rare genetic disorders (Ex: Ashkenazi Jewish ancestry)
6
Q
Recommended questions for family history to obtain informtion on key genetic issues
A
- heath problems that run in family
- cancer, heart disease, other adult onset medical conditions at an early age
- intellectual/learning disabilities
- early deaths (stillbirhts, infant deaths etc.)
- extreme/unexpected reactions to anesthesia
- problems w/ pregnancy, infertility, or brith defects
7
Q
How do you record a family history for genetic purposes?
A
- as a pedigree
- include first and second degree relatives
- note unusual diseases (breast cancer in male)
- single relative w/ multiple cancers
- bilateral cancers in paired organs
- disease onset <40 yo
- family members w/ precursor lesions (colon polyps)
8
Q
Benefits of pedigrees
A
- help visualize disease inheritance risk
- visually superior than list form
- obtain data from both sides of family
- uses 3 generations minimum
9
Q
What to ask about when building a pedigree
A
- spontaneous abortions
- stillbirths
- infertillity
- children relinquished for adoption
- deceased individuals
- consanguintiy if indicated
10
Q
What to take into account when interpretting a pedigree
A
- size of family
- number of unaffected relatives
- types of dx
- age at onset
- adoption
11
Q
proband
A
family member who is first diagnosed for a specific genetic disorder
12
Q
Pedigree Key
A
13
Q
Inheritance of Red/Green color blindness (X-linked recessive) pedigree
A
14
Q
What inheritance patter is this pedigree?
A
autosomal dominant
15
Q
X-linked dominant pedigree example
A
16
Q
Social history in genetics
A
- should include exposure to teratogens/chemicals:
- tobacco, ETOH, drug use
- occupational exposure risk
- asbestos
- chemical warfare in military
- radiation exposure
- behavioral and social issues
17
Q
Preconceptual/prenatal medical history “red flags”
A
- genetic disorder/congenital abnormality in family
- 2 or more pregnancy losses
- unexplained infertility
- ethnic predisposition
- mother > 35 at time of delivery
- abnormal maternal serum screening
- abnormal fetal US
- teratogen exposure
- maternal condition affecting fetus
- parents w/ close biological relationship
18
Q
Pediatric medical history red flags
A
- malformations/dysmorphic features
- abnormal newborn screening
- abnormal developent
- congenital hearing loss
- congenital blindness or cataracts
- fam history
- development of degenerative neuro disorders or unexplained seizures
19
Q
Adults medical history red flags
A
- family history
- diagnosis of common disorder w/ earlier age onset than typical ( like cancer, heart disease, etc.)
- unusual manifestation of disease
- pediatric indications that have not yet been evaluated
20
Q
Instruments for physical exam
A
- sliding digital calipers
- hand held ruler
- paper/flexible ruler
- camera
- FAS (facial photographic analysis software)
21
Q
microcephaly
A
22
Q
anencephaly
A
23
Q
acrocephaly
A
24
Q
craniofacial disorder refers to ?
A
an abnormality of the face and/or head:
- jaw size and position
- cleft palate
- missing bones
- premature closure of skull fibrous joint (sutures)
- hypoplasia
25
micrognathia
- reduced length and width of mandible
- noted from front
26
retrognathia
- posteriorly positioned lower jaw, set back from face
- noted from side
27
epicanthal fold def.
- skin fold of the upper eyelid covering the inner corder of the eye
- can be normal in very yound children
- more common in asians and native americans
- associated w/ Trisomy 21
28
epicanthal fold photo
29
How would you document this appearance?
pronounced or prominent medial epicanthal fold present b/l
30
hypertelorism definition
an increased interpupillary distance (\>2 SD above mean or 97th percentile)
31
hypotelorism definition
a decreased interpupillary distance (\> 2 SD below mean or \<3rd percentile)
32
hypertelorism pic
33
hypotelorism pic
34
palpebral fissure
- space b/w the medial and lateral canthi of the open eyelids
- in adults, measures about 10mm vertically and 30 mm horizontally
35
Eye measurements; IPD, PFL, ICD
36
short palpebral fissure
37
long palpebral fissure
38
telecanthus
increased distance b/w the inner canthi
39
Coloboma
-keyhole deficiency of iris
40
Coloboma can be associated w/ what things?
- CHARGE syndrom
- Cat eye syndome
- Patau syndrome (Trisomy 13)
- Treacher Collins Syndrome
- can also be a normal varient
41
What to look at for dysmorphic features of the mouth
- look at philtrum length and smoothness
- upper lip thinness
- smooth patterns (can be normal) but often associated w/ genetic syndromes or FAS
42
FAS example
43
Dysmorphic feature of nose - low nasal bridge
44
Types of congenital ear deformities
- microtia: underdeveloped, very small outer ear
- anotia: missing 1 or both ears
- simple ear: lack of interior detail, flat pinna
- protruding ears: more than 2 cm from head
- cupped ears: flattened or rolled outer ears
- cryptotia: upper ear underneath the scalp skin
- Stahl ear: pointed outer ear
45
Dysmorphic features of the digits
- clinodactyly: inward curving of 5th finger
- brachydactyly: shortening of digits
- syndactyly: fusion of two digits
- polydactyly: extra digits
- unusual shape: tapered, clubbed, broad thumbs
46
tapered digits
47
What is this condition?
clinodactyly
48
finger clubbing
49
What condition is this?
Syndactyly
50
Musculoskeletal physical exam features
- limb length
- height
- arm span
- joint hypermobility
51
Dysmorphic features of the skin and hair
- pigmentation: hypopigmentation/hyperpigmentaiton
- hair quality, texture, pattern, distribution
- albinism: autosomal recessive inheritance caused by mutation
52
Cafe au lait macules are associated w/ what?
neurofibromatosis
53
How can genetic conditions produce neurocognitive impairments?
- structureal brain malformation
- aberrant signaling involving genes that play important neurological roles
- inborn errors of metabolism (not enough of needed substrate or accumulation of toxic metabolite)
- developmental delay
54
Clinical features at birth in Down Syndrome (Trisomy 21)
- low set ears
- hypotonia
- simian crease
- wide space b/w 1st and 2nd toe
- flat face
\*Cause is chromosomal abnormality, not inherited mutation
55
Clinical features later on in down syndrome
- upslanting palpebral fissures, epicanthal folds, midface hypoplastia, and small dysplastic pinnae
- generalized hypotonia
- cognitive disabilities (mild to moderate)
- assocaited congenital heart disase and GI anomalies
56
Trisomy 18 (Edwards Syndrome) clinical findings
- small infants for gestational age
- dymorphic features:
- characteristic facies (micrognathia, cleft palate)
- prominent occiput
- malformed ears
- overlapping fingers
- rocker-bottom feet
- congenital heart disease (ventricular septal defect or PDA)
57
Trisomy 18 (Edwards) overview
58
Turner syndrome clinical features
- short stature
- broad chest, wideset nipples
- low hairline
- webbed neck
- cubitus valgus
- lymphedema of hands and feet
59
Turner Syndrome
60
Treacher Collins Syndrome clinical features
- underdeveloped zygomatic bone and maxilla
- sad looking face, eyes slant down
- celft palate
- ear deformities and hearing loss
- can have respiratory problems
- wide range of severity
- normal intellect
61
Treacher Collins pic
