CLINICAL APPROACH TO THE DYSMORPHIC CHILD - PowerPoint PPT Presentation

1 / 71
About This Presentation
Title:

CLINICAL APPROACH TO THE DYSMORPHIC CHILD

Description:

Natural Hx. Pre-natal vs. Post-natal onset of developmental problems. Pre-natal: ... Constructing the pedigree and analysis of the pedigree. ... – PowerPoint PPT presentation

Number of Views:3504
Avg rating:5.0/5.0
Slides: 72
Provided by: maalh
Category:

less

Transcript and Presenter's Notes

Title: CLINICAL APPROACH TO THE DYSMORPHIC CHILD


1
CLINICAL APPROACH TO THE DYSMORPHIC CHILD
2
Dysmorphology
  • Coined by Dr.David Smith in the 1960s to describe
    the study of human congenital malformation.
  • It encompass the variability of normal physical
    trait as well as pathologic features resulting
    from abnormal development.

3
Accurate diagnosis
  • Allow for decision making and communicating in
    the followings-
  • Prognosis.
  • Treatment options.
  • Occult abnormalities.
  • Recurrence risk.
  • Pathogenesis.
  • Natural Hx.

4
Pre-natal vs. Post-natal onset of developmental
problems
  • Pre-natal
  • Alteration of pregnancy
  • Gestational timing , onset nature of fetal
    activity ,and amount of amniotic fluid.
  • Alteration noted at birth
  • Increased incidence of breech presentation.
  • Prenatal onset of growth deficiency.
  • Difficulty with neonatal adaptation.

5
(No Transcript)
6
(No Transcript)
7
SINGLE PRIMARY DEFECT IN DEVELOPMENT
  • Subcategorized according to the nature of error
    in morphogenesis which can be helpful to
    prognosis.
  • 4 modes of pathogenesis for birth defects in
    humans.
  • Deformation.
  • Disruption.
  • Dysplasia.
  • Malformation.

8
SINGLE PRIMARY DEFECT IN DEVELOPMENT (cont.)
  • Malformation.
  • Term used for permanent changes produced by an
    intrinsic abnormality of development in a body
    structure during prenatal life.
  • The actual mechanism is unknown but many involved
    error in embryonic cell proliferation,
    differentiation , migration, programmed death
    as well as cell to cell communication.
  • e.g.. Pyloric stenosis.
  • Cardiac septal defect.

9
SINGLE PRIMARY DEFECT IN DEVELOPMENT (cont.)
  • Deformation.
  • Those anomalies caused by unusual mechanical
    pressure on the developing fetus usually during
    the last trimester of gestation.
  • Mechanical stress may be either extrinsic or
    intrinsic.
  • Recurrence risk is low.

10
(No Transcript)
11
SINGLE PRIMARY DEFECT IN DEVELOPMENT (cont.)
  • Dysplasia.
  • Structural defects resulting from abnormal
    cellular organization or function that affect one
    general tissue throughout the body.
  • Tissue dysplasia tend to persist or even worsen
    with age.
  • Prognosis depend on the natural hx. Of the disease

12
(No Transcript)
13
(No Transcript)
14
(No Transcript)
15
(No Transcript)
16
SINGLE PRIMARY DEFECT IN DEVELOPMENT (cont.)
  • Disruption.
  • Affect structures that had been undergoing normal
    development growth in utero.
  • Usually it is local adjacent structure are
    often normal.
  • Caused by severe mechanical stress Amniotic band
    , Viral infections , Tissue ischemia.
  • Patients usually have the potential for normal
    intellectual development physical growth.
  • Most are sporadic , rec.risk is v.low.

17
(No Transcript)
18
Malformation
Deformation
Disruption
Interrelationships between malformations,deformati
ons,and disruptions
19
  • ETIOLOGY PATHOGENESIS PHENOTYPE
  • Oligohydramnios Extrinsic
    mandibular

  • deformation
  • Neurogenic hypotonia Lack of mandibular

  • exercise
  • Growth deficiency Intinsic
    mandibular Robin
    sequence

  • hypoplasia
  • Connective tissue Intrinsic
    mandibular
  • disorder
    hypoplasia and failure

  • of connective tissue

  • penetration across palate

20
Syndromes associated with Robins sequence
N.B 17 of Pierre Robin sequence is isolated
non-syndromic  
21
  • ETIOLOGY PATHOGENESIS
    PHENOTYPE
  • Autosomal dominanant Mesenchymal blastoma
  • gene
  • Hyperthyrodism Accelerated osseous
    Crainosynstosis
  • maturation
  • Microcephaly Lack of growth stretch
  • across sutures

22
Types of Birth Defects
  • Major vs. Minor abnormalities.
  • Isolated vs. Multiple anomalies.
  • Associations Complexes.
  • Sequences Syndromes.

23
1.Major vs. Minor anomalies
  • Major malformations.
  • Those that have medical /or social
    implications. Often require surgical repair.
  • Minor malformations.
  • Have Mostly cosmetic significance.
  • Normal variants.

24
(No Transcript)
25
(No Transcript)
26
(No Transcript)
27
(No Transcript)
28
(No Transcript)
29
2.Isolated vs. Multiple Anomalies
  • Most are isolated affecting a single body site.
  • 2/3 of the major defect are isolated ,
  • and of multifactorial inheritance with
    increased frequency in some families racial
    groups.

30
3.Associations and complexes
  • Association
  • Non-random combination of anomalies in which the
    individual component occurs together more
    frequently than would be expected by chance and
    arent enough to justify definition as a
    syndrome.
  • e.g.. VACTERAL , CHARGE , MURCS .
  • The recurrence risk is extremely low
  • Prognosis depends on the lesions

31
3.Associations and complexes (cont.)
  • Complex
  • Anomalies of several different structure all of
    which lie together in the same local body region
    during embryonic development.
  • e.g. Poland anomaly , Sacral agenesis.

32
4.Sequences and syndromes
  • Sequence
  • A single underlying abnormality give rise is
    a cascade of structural changes that might seem
    to be unrelated to each other ( Field- defect).
  • Original defect is malformation. e.g..NTD
    sequence, Potter oligohydramion sequence.
  • Disruption sequence (Amniotic band).
  • Deformation sequence.

33
(No Transcript)
34
4.Sequences and syndromes (cont.)
  • Syndrome
  • A recognized pattern of cong. Abnormalities whose
    unique combination of features set it apart from
    all other patterns.
  • NO one congenital malformation is pathognomonic
    for specific syndrome.
  • Syndrome diagnosis relies on the ability of the
    clinician to detect and correctly interpret
    physical developmental findings and to
    recognize pattern in them.

35
(No Transcript)
36
(No Transcript)
37
(No Transcript)
38
(No Transcript)
39
  • Some Clinical Features suggest a specific
    diagnosis. (pearls of dysmorphology )
  • Pursed up lips Whistling face syndrome.
  • Broad thumbs/great toes Rubinstein Taybi
    syndrome ,
  • Pfeiffer syndrome.
  • Fanconi anaemia.
  • Absent clavicles Cleidocranial
    dysostosis.
  • Heterochromia iridis Waardenburg
    syndrome.
  • Mitten hands Apert syndrome.
  • Inverted nipples Congenital disorder of
    glycosylation.
  • Webbing of neck Turner and Noonan
    syndrome.
  • Eversion of the lateral third of the lower
    eyelid Kabuki make-up
    syndrome.

40
APPROACH TO THE DYSMORPHIC CHILD
  • Gathering information
  • Constructing the pedigree and analysis of the
    pedigree.
  • Reviewing Past records and Prenatal history.
  • Clinical assessment
  • a.Visual assessment.
  • b. Measurement.
  • c. Extended Family.
  • 4. Counseling.
  • 5. Follow-up.

41
Pedigree Drawing
  • Three generations is required to be constructed.
  • The male line on the left.
  • Roman numerals are used for defining generation.
  • Arabic numerals are used to indicate each
    individual within a generation.

42
(No Transcript)
43
(No Transcript)
44
(No Transcript)
45
(No Transcript)
46
(No Transcript)
47
Measurements
48
Measurements
49
Measurements
50
Measurements
51
(No Transcript)
52
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.

53
Primary telecanthus,secondary telecanthus, and
hypertelorism
  • (A)Normal interocular distance.
  • (B)Primary telecanthus.The inner canthi are far
    apart, although the outer canthi are normally
    spaced.
  • (C)True ocular hypertolrism,both inner outer
    canthi are abnormally far apart.
  • (D)True ocular hypertelorism together with
    secondary telecanthus.

54
(No Transcript)
55
3D Facial Photographs.
56
(No Transcript)
57
(No Transcript)
58
Reaching a diagnosis
  • Fast recall of the facial gestalt.
  • Select few pivotal features or diagnostic handles
    from hx. exam.
  • Prioritizing the feature
  • Consult textbooks or search engines.
  • POSSUM , LDDB , OMIM .
  • Case reports.

59
(No Transcript)
60
(No Transcript)
61
(No Transcript)
62
(No Transcript)
63
(No Transcript)
64
(No Transcript)
65
  • Enter one or more search terms.
  • Use Limits to restrict your search by search
    field, chromosome, and other criteria.
  • Use Index to browse terms found in OMIM records.
  • Use History to retrieve records from previous
    searches, or to combine searches.

66
INVESTIGATIONS
  • (A) Chromosomal analysis
  • 1. Presence of a typical defined
    chromosomal disorder.
  • 2. Presence of four features- MR,
    physical retardation ,

    malformation and dysmorphogenesis in
    a child.
  • 3. Features of two or more syndromes
    in one pt. To exclude contiguous gene syndrome.
  • 4. Malformation known to have a high
    association with a chromosomal
    disorder e.g. holoprosencephaly.
  • 5. Child with non-specific dysmorphism
    without a specific diagnosis.

67
INVESTIGATIONS,(cont.)
  • (B) Imaging studies , both conventional MRI.
  • (C) Echocardiography.
  • (D) Metabolic studies.

68
APPROCH TO THE DYSMORPHIC CHILD
  • Counseling
  • Counsel the parents together.
  • Remove distractions.
  • Be prepared to repeat.
  • Use visual aids.
  • Ascertain what the family needs.

69
APPROACH TO THE DYSMORPHIC CHILD
  • Follow up
  • Lack of diagnosis.
  • Counseling other family members.
  • New diagnostic technique.
  • Natural history.

70
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
  • Laboratory tests
  • X-ray studies
  • 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

71
(No Transcript)
Write a Comment
User Comments (0)
About PowerShow.com