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COMMON CONGENITAL SYNDROMES

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COMMON CONGENITAL SYNDROMES Powered By Docstoc
					       COMMON CONGENITAL
          SYNDROMES

                   Unit 1 Module 3




Prepared by: C. Sargo RN (EC)
Reviewed by: Maj. Quinn RN (EC)
      THE DYSMORPHIC CHILD

• 3/100 infants are born with a congenital defect
• Many of them associated with a degree of
  developmental disability
• Genetic disorders and birth defects account for >
  40% of childhood deaths
• Diagnosis of syndromes is based on pattern of
  dysmorphic features and organ involvement
     APPROACH TO EVALUATING
      THE DYSMORPHIC CHILD
• History
• Prenatal/obstetrical history
• Complete 3 generation family pedigree:
-   Consanguinity
-   Stillbirths
-   Neonatal deaths
-   Specific congenital defects/illnesses
-   Mental retardation (MR)
-   Multiple miscarriages
-   Ethnicity
   APPROACH TO EVALUATING
    THE DYSMORPHIC CHILD
• Physical Examination

- Growth parameters: head circumference (HC), height
  (Ht), and weight (Wt)
- Skull: contour and symmetry
- Hair: texture and pattern
- Neck: look for redundant nuchal skin/webbed neck
- Facial features: compare with siblings and parents
- Ears: structure, size, placement and rotation
    APPROACH TO EVALUATING
     THE DYSMORPHIC CHILD
• Physical Examination

- Eyes -distance apart, orientation, eyebrows and eyelashes,
  any unusual folds or creases, coloboma, fundus
- Nose: nasal bridge, nostrils
- Philtrum: length and shape
- Mouth: lips, palate, tongue and teeth
- Chin: size and position
    APPROACH TO EVALUATING
     THE DYSMORPHIC CHILD
• Physical Examination

- Thorax: shape, size and nipple spacing
- Hands and feet: creases, structure (e.g. overlapping
  fingers/toes), and nails
- Limbs: proportions, reduction defects, and amputations
- Spine: scoliosis
- Genitalia: ambiguous
- Skin: hair tufts, sacral dimples/sinus
    APPROACH TO EVALUATING
     THE DYSMORPHIC CHILD
• Management

- Refer for investigations
- X-rays if bony abnormalities or if suspect a congenital
  infection
- Genetic/chromosome studies
- Biochemistry: specific enzyme assays
- Molecular biology for specific testing
- Counseling and recurrence risk assessment
FETAL ALCOHOL SYNDROME
CONGENITAL HYPOTHYROIDISM
DOWN SYNDROME (DS)
        DOWN SYNDROME (DS)

• Most common abnormality of autosomal
  chromosomes
• Trisomy 21
• Incidence- 1 in 600-800 live births
• Incidence rises with advanced maternal age to 1 in
  20 by age 45 years
• Affected fetuses have increased risk or
  spontaneous abortion
          DOWN SYNDROME (DS)

• Clinical Features

-   Very wide range of severity
-   Low IQ
-   Developmental delay
-   Short stature
-   Obesity
-   Shorter life expectancy
          DOWN SYNDROME (DS)

• HEENT Features

-   Flat occiput, 3rd fontanelle,
-   Microcephaly, small midface,
-   Small mandible and maxillae
-   Upslanting palpebral fissures
-   Epicanthal folds
-   Speckled iris (Brushfield spots)
          DOWN SYNDROME (DS)

• HEENT Features

-   Refractive errors and strabismus
-   Furrowed prominent tongue
-   High arched palate
-   Ear anomalies
-   Frequent AOM
-   Hearing problems
          DOWN SYNDROME (DS)

• CVS:
- Congenital heart defects (50%), particularly septal defects
  (VSD)
• GIT:
-   Duodenal/esophageal/anal atresia
-   TE fistula
-   Hirschsprung disease
-   Chronic constipation
           DOWN SYNDROME (DS)

• MSK:
-    Lax joints including dysplastic hips
-    Vertebral anomalies
-    Atlantoaxial instability
 -   Wide gap between 1st and 2nd toes


• GU:
- Cryptorchidism
         DOWN SYNDROME (DS)

• Dermatology:
- Simian (palmar) crease
- Abnormal dermatoglyphics


• Hematology:
- 1% lifetime risk of leukemia


• Endocrine:
- Hypothyroidism
               DOWN SYNDROME

• Management- symptomatic as needed care
• Recommended testing
-   ECHO
-   Thyroid tests
-   Atlanto-occipital x-ray at 2 and 12 years (controversial)
-   Hearing test
-   Ophthlamology assessment
• Early intervention stimulation programs to help
  child reach full potential
            TURNER SYNDROME
•   Genotype: 45X (most common), mosaic (45XO)
•   Incidence: 1:2500 live female births
•   Clinical features
-   Intelligence usually normal, may have mild learning
    disabilities
-   Short stature, short webbed neck
-   Low posterior hair line, wide carrying angle at elbows
-   Broad chest, widely spaced nipples
-   Lymphedema, cystic hygroma in the newborn
-   Polyhydramnios, lung hypoplasia
            TURNER SYNDROME

• Clinical features ( continued)

-   Gonadal dysgenesis ---> infertility, primary amenorrhea,
-   Lack of development of secondary sexual characteristics
-   Coarctation of the aorta, bicuspid aortic valve
-   Renal anomalies
-   Increased risk of hypertension (HTN)
           TURNER SYNDROME

• Prognosis:
- Normal life expectancy if no complications


• Management
- Early screening for cardiac disease
- Growth hormone therapy for short stature
- Estrogen replacement at time of puberty
     KLINEFELTER SYNDROME

• Genotype: 47 XXY (most common)
• Incidence: 1:1000 live male births
• Associated with late maternal age
• Developmental delay, mild mental retardation,
  long limbs
• Hypogonadism, hypospermia
• Gynecomastia, lack of facial hair
• Treatment: testosterone in adolescence
                   FRAGILE X
• Most common genetic cause of developmental
  delay in boys
• Incidence 1:1250; X-linked recessive
• Clinical features
- Overgrowth: prominent jaw, forehead, ears; elongated,
  narrow face
- Macroorchidism
- Hyperextensibility
- High arched palate
- Mitral valve prolapse
                     FRAGILE X

• Often hyperactive and/or autistic
• IQ typically 30-65 but 20% of affected males have
  normal intelligence

• Diagnosis
- Genetic studies:
       DIGEORGE SYNDROME

• 2nd most common genetic diagnosis (next to
  Down syndrome)

• Results from microdeletions of 22q11 (unequal
  crossing of chromosomes in meiosis)

• Presents in newborn period
        DIGEORGE SYNDROME

• Clinical features: "CATCH 22"

- Cyanotic CHD
  Anomalies in face: craniofacial anomalies
  Thymic hypoplasia  immunodeficiency, recurrent
  infections
  Cognitive impairment
  Hypoparathyroidism  hypocalcemia
  22q11 microdeletion

				
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