Dysmorphic and congenital abnormalities Flashcards Preview

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Flashcards in Dysmorphic and congenital abnormalities Deck (26):
1

General observation newborn

Weight, length, head circumference
Maturity
Tone
Reflexes
Is this a healthy baby feeding well

2

Facial features->dysmorphic

Simple or low set ears
Accessory auricle or pre-auricle pits
Asymmetry of face and mouth
Mongolian or anti-mongolian slanting eyes
Epicanthal folds
Micrognathia

3

Heart

Cyanosis
Heart failure
Heart murmur
Femoral pulses
Apex beat

4

Back and spine

Spina bifida
Posterior encephalocele
Midline nevus, lipoma, or deep sacral pit can indicate an underlying spinal abnormality

5

Hips

Barlow and ortalani test of congenital dislocation of the hips

6

Risk factors for congenital dislocation of the hips

Breech
Family history
Female
Impaired limb movement

When risk factors->need hip USS before 12 weeks

7

Genitalia and anus

Patency
Testicles present
Ambiguis genitalia
Hypospadias
Cryptorchidism

8

Limbs

Tallipes equinovarua
Polydactyly
Syndactyly
SIngle palmar crease and sandal gap between toes->downs
Contractures (oligohydramnios or congenital muscular disorder
Absent radii (VACTERL)

9

Head

Anterior, posterior fontanells
Cephalohematoma
Chignon from suction cup

10

Eyes

Red reflex
Sclera
Coloboma (defect/hole in one of the structures of the eye)

11

Mouth

Cleft lip
Cleft palate
Central cyanosis
Neonatal teeth

12

Chest

RR
Respiratory distress
Symmetry of chest wall movement

13

Abdomen

Abdominal distension or bile stained vomiting
Palpable kidneys
Anterior abdominal wall defects
Three vessels in umbilical cord

14

Common syndromes

Trisomy 21
Trisomy 13
Trisomy 18
Turner
Noonans (lymphoedema)
VACTERL and VATER
Pierre Tobin sequence

15

Define syndrome

Consistent pattern of dysmorphic features seen together and suggests a genetic origin

16

Define sequence

One abnormality leads to another
Pierre Robin sequence->Micrognathia causes posterior displacement of the tongue= palate formation prevented= cleft palate

17

Association definition

Non random collection of abnormalities

18

VACTERL

Vertebral
Anal atresia
Cardiac
Tracheo-esophageal fistula
Renal
Limb

19

CHARGE associations

Coloboma
Heart
Choanal atresia
Retarded growth and devlopment
Genital hypoplasia
Ear abnormalities

20

Multidisciplinary care of cleft palate

Orthodontist
Surgeon
Speech therapist

Repair at 3 months for lip, palate repaired at 9 months

21

Expected difficulties in cleft palate

Feeding
Aspiration
Speech and dental
Conductive hearing loss->regular audiological assessments are essential

22

Forms of spina bifida

Anencephaly
Myelomeningocele->spinal cord covered by thin meninges= severe limb weakness, bladder and anal denervation, hydrocephalus
Meningocele= intact cord, exposed meninges->risk of meningitis if ruptures
Spina bifida occulta->hidden, vertebral bodies fail to fuse, 5-10% in normal infants. Tuft of hair, nevus, deep sacral pit at midline->sacral USS

23

DDH incidence

1% of infants
True congenital in 2/1000

24

Features of down syndrome

1. Mild microencephaly, flat occiput, 3rd fontanelle
2. Upslanting palpebral fissures, inner epicanthal folds, spickled iris, refractive errors (myopia), cataracts, nystagmus, strabismus
3. Low set ears, small, overfolded upper helix, frequent AOM, hearing loss
4. Protruding tongue, large cheeks, low flat nasal ridge, small nose
5. Short, +nuchal skin, joint hyper-extensibility, dysplastic hips, vetrebral, atlantoaxial instability
50% cardiac, AVSD
6. Duodenal/esophageal/anal atresia, TE fistula, Hirschsprungs, chronic constipation
7. Hypotonia at birth, low IQ, developmental delay, hearing, alzheimers in 40 yo
8. Transverse palmar, absent middle phalynx on fifth, 1% leukemia risk, polycythemia, hypothyroid

25

Investigations in Down

Xsomal analysis
CBC
Echo
Thyroid
Atlanto-axial Xray
SLeep study
Hearing test
Opthalmology

26

History

Are the anomalies major or minor
What is the underlying mechanism
Any association, sequence or syndrome
Prenatal/obstetric Hx
Complete 3 generation pedigree: consanguinity, stillbirths, neonatal deaths, specific
illnesses, intellectual disability, multiple miscarriages, ethnicity

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