Identifikasi sindrom. mengenali kelainan bawaan secara lebih detail.

1. Hendrik Sutopo
1

2. Accurate diagnosis of the syndrome
better decision making and communicating :
 Prognosis.
 Treatment options.
 Occult abnormalities.
 Recurrence risk.
 Pathogenesis.
 Natural Hx.
Until february 2013  542 syndromes
How to remember???  difficult
How to diagnosis ??  more difficult..
2

3. Trisomy 18, Edward syndrome
1/8000
3

4. Syndrome Identification :
Making a diagnosis, even if it’s a bad diagnosis,
is more useful for patients than having no diagnosis
but a
wrong diagnosis is worse than no diagnosis.
The first step towards an accurate diagnosis of a
syndrome is by extensive phenotypic analysis
4

5. Measurements
5

6. P
H
YS
IC
A
L
NAME:______________ D ATE:____
REG #:______________________________
DOB: _____ A GE:___________
VITAL SIGNS
BP: RA ______ LA ______
RL ______ LL ______
HR: RR ___ LR ___ RDP ___ LDP ___
RR: ______
HEIGHT: _____in ______cm ( %)
WEIGHT: _____lbs ______kg ( %)
HEAD - NECK
General desc ription:
HEAD CIRCUM. : ______cm ( %)
Cranium/Sutures:
Hair distribution:
Eyes: IC: ______cm ( %)
OC: ______cm ( %)
IP: ______cm ( %)
RPF: ______cm ( %)
LPF: ______cm ( %)
Ears: shape:
placement:
R ______cm ( %)
L ______cm ( %)
Philtrum: ______cm ( %)
Lips:
Palate and mouth
Teeth:
Chin:
Neck:
TRUNK - ABDOMEN
General desc ription:
sternum:
spine:
Breast: Tanner Stage: ______
Heart:
Lungs:
Ches t circumference:______cm
Inter nipple distance: ______cm
IND______/ CC______= ______ ( %)
Abdomen:
Umbilicus:
Genitalia:
penile length: ______cm ( %)
testic ular vol.: ______cm ( %)
Tanner Stage: ______
SKIN
General desc ription:
Freckles - Ir is:_____Axillary:_____ Inguinal:_____
# CAL s pots: _____ Size range:_______cm
# Neurofibromas: _____ Size range:_______cm
Hypopigmented lesions:
Other lesions:
EXTREMITIES - PROPORTIONS
General desc ription:
laxity:
contratures :
digital abnormalities:
LOWER segment: ______cm
UPPER segment: ______cm (HT-LS)
US/LS ratio: ____/____= % ( SD)
ARM SPAN: _____ cm
WRIST SIGN: ____ THUMB SIGN: ____
HAND: R ______cm ( %)
L ______cm ( %)
MIDDLE FINGER: R ______cm ( %)
L ______cm ( %)
PALM : R ______cm ( %)
L ______cm ( %)
FOOT: R ______cm ( %)
L ______cm ( %)
Finger to Hand: _____/_____ ( %)
Hand to Height _____/_____ ( %)
Foot to Height _____/_____ ( %)
NERVOUS SYSTEM
Mental s tatus:
Cranial nerves:
Muscle bulk and tone:
Sensation:
Motor strength: Deep tendon reflexes :
DIAGRAM TO DOCUMENT FINDINGS
R FRONT L R BACK L
RIGHT HAND LEFT HAND
E
X
A
M
6

7. General morphological aspect
Progressive phenotype
7

8. Body habitus
– Thin / Fatty
– Proportionate / disproportionate
8

9. 9

10. 10

11. Head circumference
11

12. Head circumference
Microcephaly
Microcephalia vera
Macrocephaly
Hydrocephaly
12

13. 13

14. Common Facial Measurement
(1) Interpupillary distance,
(2) inner canthal distance,
(3) outer canthal distance,
(4) interalar distance,
(5) philtral length,
(6) upper lip thickness,
(7) lower lip thickness,and
(8) intercommisural
distance.
14

15. Face
Upper face
Middle face
Lower face
Round, narrow, long, large face…
1/3
1/3
1/3
15

16. Upper face
Middle face
Lower face
Face
16

17. 17

18. Upper face
1) Forehead
2) Eyebrows
3) Eyes:
- Orientation of palpebral fissures
- Eye distance
- Intercanthal distance : a
- Palpebral fissure: b
- Interpupillary distance: c
- Bitemporal distance: d
Standard:
a = b
c/d = 1/2 (more precise)
Hypertelorism :
a > b
c/d > 1/2
Hypotelorism :
a < b
c/d < 1/2
18

19. Upper face
1) Forehead
2) Eyebrows
3) Eyes:
- Orientation of palpebral
fissures :
. Horizontal
. Up-slanting
. Down-slanting
19

20. Hypertelorism
Coffin-Lowry syndrome
Hypotelorism
Holoprosencephaly Microforme
20

21. 21

22. 22

23. Measurements
24

24. 25

25. 26

26. 27

27. 28

28. 29

29. 30

30. 31

31. Frontal Bossing, down-slanting, mid face hypoplasia, low set ear
32

32. 33

33. 34

34. Omphalacele
Gastroschisis
35

35. Neural Tube Defects
36

36. Open lesions
Closed lesions
37

37. Extremities
Post / pre-axial Polydactylies
Post-axial hexadactyly
38

38. Extremities
Syndactylies
Type I Type II Type III Type IV Type VI
39

39. Extremities
Palmar creases
Short hand
Simian
crease
Distal
crease
Proximal
crease
Thenar
crease
Simian crease:  4% of the general population / 66% in Down syndrome
40

40. Polydactyly (tipe B dan A)
41

41. 42

42. 43

43. 44

44. 45

45. 46

46. 47

47. 48

48. Adactyly / ectrodactyly
49

49. Genu recurvatum /
hyperextention knee 50

50. 51

51. micropenis
52

52. Hypertelorism, Labiopalatoschisis,
Wide spaced nipples, Hipospadia ?53

53. 54

54. ?55

55. ? Down syndrome
Simian
Short hand
Clinodactyly of Vth finger crease
Flat & broad face, round and large cheek
Midface hypoplasia, hipertelorism
Up-slanting palpebral fissures
Small and round ears (brachymesophalangy)
56

56. POSTPARTUM MANAGEMENT
OF C.A.
For better understanding of congenital anomalies
and its impact on future reproductive performance of
Couple :
1. Physical examination/postmortem
2. Fetal tissue(blood, skin, placenta) for karyotyping
3. Placenta and membrane for histopathology
4. Placental & baby swab for microbiology & virology.
5. Baby gram (x-rays of whole baby)
6. Baby photograph
57

57. Components of the Dysmorphologic Evaluation
Suspicion
Congenital abnormalities
Growth problems
Mental deficit
Analysis
History
Pedigree
Family
Pregnancy & Birth
Health
Growth & Development
Previous laboratory and X-ray
studies
Physical examination
Anatomic regions
Organ systems
Measurements
Photographs
Other
Family investigations
Watchful waiting
Synthesis
“ Pivotal “ findings
Pattern recognition
Comparison with known cases
Personal experience
Literature
Confirmation
Laboratory
Clinical course
Birth of affected relatives
Intervention
Treatment
Counseling
Follow-up
58

58. Summary
 a bad diagnosis (not wrong diagnosis) is more useful
than having no diagnosis.
 The principles in dysmorphology include the
determination of the underlying pathogenic mechanism,
and if it is a single system or multi-system defect.
 The first step towards an accurate diagnosis of a
syndrome is by extensive phenotypic analysis
59

59. QUESTIONS ??
60