Approach to a child with dysmorphism
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Transcript of Approach to a child with dysmorphism
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Approach to a child with dysmorphism
Dr. Syeda Ismat Bukhari
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Introduction The term dysmorphic is derived from the Greek words “dys”
(disordered, abnormal, painful) and “morph” (shape, form).
Dysmorphology is a discipline of clinical genetics that studies and attempts to interpret the patterns of human growth and structural defects.
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Dysmorphism Vs Syndrome The child with dysmorphic signs often does not have a major
malformation, and he or she may simply have an appearance that is unusual compared with the general population and out of keeping with that of unaffected close relatives.
A syndrome is simply a recognizable pattern of dysmorphic signs that have a common cause.
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Understand the difference Major malformation
with medical +/- social implications
often require surgical repair
Minor malformation
are of cosmetic significance sometimes
Normal variants
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Incidence Major congenital anomalies
At birth 2 – 3 %
At 5 yrs 4 – 6 %
Minor congenital anomalies
At birth 15 %
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The importance of recognizing minor anomalies Minor anomalies are often
indicators for relevant major anomalies.
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Causes of malformationsCause Percent incidence
GeneticChromosomeSingle gene
15 – 25 10 – 152 – 10
Multifactorial 20 – 25
EnvironmentalMaternal diseasesUterine / PlazentalDrug / Chemicals
8 – 126 – 8 2 – 3
0.5 – 1
Twinning 0.5 – 1
Unknown 40 – 60
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History of intrauterine development
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Periods of malformation
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Clinical approach
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History Antenatal history
Problems with infertility (medications [clomid] techniques [IVF - invitro fertilization, PGD - preimplantation
genetic diagnosis, ICSI - intracytoplasmic sperm injection]) Fetal Movement (active, decreased) Exposures (medications, tobacco, alcohol, drugs, chemicals) Illnesses (fevers, exposures to infections) Problems (bleeding, pre-term labor, abnormal prenatal testing
or ultrasound)
Birth history Presentation: breech/cephalic/oblique Delivery: vaginal, c-section (why?) Neonatal course (complications/problems and days hospitalized)
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History Neonatal status
APGAR Anthopometric measurements Resuscitation
Newborn course Feeding Activity Obvious deformities Complications / issues
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History Past Medical History
Illnesses, hospitalizations, surgeries, immunizations, medications, allergies
A detailed review of systems.
Developmental History Address parental concerns. Determine ages for milestones (gross motor, fine motor,
personal/social, language). Determine current milestones (appropriate for age?).
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Family history
Take a detailed, three-generation family history
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Family historyAsk for:
Birth defects Other genetic diseases Multiple miscarriages Parental ages and health status Consanguinity and geographic origin
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Physical examination Growth monitoring
Measurements of the child's weight, length, and head circumference should be plotted on the standardized growth charts.
General appearance Body shape and size etc.
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Physical examination
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Investigations Cytogenetics is a mainstay of diagnosis in dysmorphology.
However, chromosome studies are labour intensive and relatively expensive.
To be visible, a chromosome deletion or duplication probably involves at least 3–4 kilobases of DNA10 (perhaps 15–30 genes, depending upon the location and the chromosome).
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Fluorescence in situ hybridization (FISH) Prader-Willi syndrome Angelman syndrome Smith-Magenis syndrome Miller-Dieker syndrome Velo-cardio-facial syndrome DiGeorge syndrome
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Whole chromosome painting (WCP) WCP is very useful for identifying the origin of additional
chromosome material that is microscopically visible but not distinctive enough to be assigned to a specific chromosome.
It can also be used to search for light microscopically invisible (cryptic) translocations where suspicion of a chromosome abnormality remains, despite a normal standard karyotype.
The exchange of similarly sized and banded material between 2 chromosomes, which is not visible in a standard study, becomes visible because of the exchange of different colours.
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Other investigations Molecular (DNA) diagnostics
Biochemical lab testing (to rule out any inborn error of metabolism, storage diseases etc.)
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The major problems of morphogenesis
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Disruptions Morphological alterations of structures after formation
Has low recurrence risk
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Causes of disruption Ionization (x-ray, radioactive substance exposure)
Hyperthermia
Infections
Teratogenic
Metabolic
Vascular disruption
Amnion rupture sequence
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Deformations Due to mechanical forces that mold
a part of fetus over a prolonged time period
The musculoskeletal system may be involved, but may also be reversible post-natally
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Breech presentation
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Risks for fetal constraint Maternal risk factors
Primigravida Small uterus Uterine malformation Uterine fibromata Small maternal pelvis
Fetal risk factors Oligohydroamnios Large fetus Multiple gestation
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Deformations related to breech presentation
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Malformations
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Disorders of lymphatic drainage
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Cleft palate
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Telecantus, hyper-/hypo-telorsim
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Ear defects
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Chin
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Digit anomalies
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Non-disjunction syndromes
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Down syndrome (trisomy 21) Low set ears Hypotonia Simian crease Wide space between first and
second toe Flat face
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Patau syndrome (trisomy 13) Holoprosencephaly Cutis aplasia Microcephaly Microphthalmia Cleft lip +/- palate Polydactyly Congenital heart defect
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Edwards syndrome (trisomy 18)
Weak cry Polyhydroamnios Growth deficiency Low-set, malformed
auricles Clenched hand with
overlapping fingers Rocker bottom feet Congenital heart
defect
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Klinefelter syndrome (47xxy)
Tall stature Behavioral issues Post-pubertal
hypogonadism
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Turner syndrome (45x)Not diagnosed until 5-6
yrs Webbed neck Shield chest Cubitus vulgaris Low hairline Short stature Renal anomalies Cardiac anomalies
(bicuspid aortic valve and coarctation of aorta)
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Microdeleteions
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Wolf hirshorn (4p) Hypertelorism Broad nasal bridge Cleft lip +/- palate Down turned mouth Severe mental retardation
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Cri-du-chat (5p) Microcephaly Growth retardation High-pitched cat-like cry Congenital heart disease Hypotonia
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Contiguous gene syndrome
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Prader-willi syndrome (15q11) Obesity Hypotonia Small hands and feet Upward slanting
palpebral fissures IQ : 60 – 70 Micro-penis /
cryptorchidism
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Angelman syndrome (15q11) Mental retardation Puppet like gait Paroxysms of inappropriate laughter Absent / limited speech Seizures
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22q11 deletion syndromes(Di-George, Velocardial-facial, Sprintzen)
Micrognathia Low set ears Short palpebral fissures Blunted nose High-arched palate Cleft palate +/- bifid uvula
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Autosomal dominant syndromes
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Achondroplasia (FGFR3)
Rhizomelic shortening of limbs
Short fingers held in trident configuration
Elarged head with depressed nasal bridge
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Neurofibromatosis > 6 café-au-lait spots >2 neurofibromas Lisch nodules (iris hematoma) Optic gliomas Angiofibromas Axillary or inguinal freckling
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Osteogenesis imperfecta Fractures Osteopenia Blue sclera Hearing loss Short stature
Four types
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Autosomal recessive
Cystic fibrosis
Tay-Sacs disease
Sickle cell anemia
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Teratogens
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Fetal alcohol syndrome
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Quiz
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What are the most appropriate genetic condition associated with the following physical findings?
Webbed neck
Macrosomia
Rhizometric shortening
Small hands
Café-au-lait spots
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What are the most appropriate genetic condition associated with the following physical findings?
Upward slanting palpebral fissures
Downward slanting palpebral fissures
Lich nodules
Kayser-fleischer ring
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Thank you