Dysmorphic and congenital abnormalities Flashcards
General observation newborn
Weight, length, head circumference Maturity Tone Reflexes Is this a healthy baby feeding well
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
Heart
Cyanosis Heart failure Heart murmur Femoral pulses Apex beat
Back and spine
Spina bifida
Posterior encephalocele
Midline nevus, lipoma, or deep sacral pit can indicate an underlying spinal abnormality
Hips
Barlow and ortalani test of congenital dislocation of the hips
Risk factors for congenital dislocation of the hips
Breech
Family history
Female
Impaired limb movement
When risk factors->need hip USS before 12 weeks
Genitalia and anus
Patency Testicles present Ambiguis genitalia Hypospadias Cryptorchidism
Limbs
Tallipes equinovarua
Polydactyly
Syndactyly
SIngle palmar crease and sandal gap between toes->downs
Contractures (oligohydramnios or congenital muscular disorder
Absent radii (VACTERL)
Head
Anterior, posterior fontanells
Cephalohematoma
Chignon from suction cup
Eyes
Red reflex
Sclera
Coloboma (defect/hole in one of the structures of the eye)
Mouth
Cleft lip
Cleft palate
Central cyanosis
Neonatal teeth
Chest
RR
Respiratory distress
Symmetry of chest wall movement
Abdomen
Abdominal distension or bile stained vomiting
Palpable kidneys
Anterior abdominal wall defects
Three vessels in umbilical cord
Common syndromes
Trisomy 21 Trisomy 13 Trisomy 18 Turner Noonans (lymphoedema) VACTERL and VATER Pierre Tobin sequence
Define syndrome
Consistent pattern of dysmorphic features seen together and suggests a genetic origin
Define sequence
One abnormality leads to another
Pierre Robin sequence->Micrognathia causes posterior displacement of the tongue= palate formation prevented= cleft palate
Association definition
Non random collection of abnormalities
VACTERL
Vertebral Anal atresia Cardiac Tracheo-esophageal fistula Renal Limb
CHARGE associations
Coloboma Heart Choanal atresia Retarded growth and devlopment Genital hypoplasia Ear abnormalities
Multidisciplinary care of cleft palate
Orthodontist
Surgeon
Speech therapist
Repair at 3 months for lip, palate repaired at 9 months
Expected difficulties in cleft palate
Feeding
Aspiration
Speech and dental
Conductive hearing loss->regular audiological assessments are essential
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
DDH incidence
1% of infants
True congenital in 2/1000
Features of down syndrome
- Mild microencephaly, flat occiput, 3rd fontanelle
- Upslanting palpebral fissures, inner epicanthal folds, spickled iris, refractive errors (myopia), cataracts, nystagmus, strabismus
- Low set ears, small, overfolded upper helix, frequent AOM, hearing loss
- Protruding tongue, large cheeks, low flat nasal ridge, small nose
- Short, +nuchal skin, joint hyper-extensibility, dysplastic hips, vetrebral, atlantoaxial instability
50% cardiac, AVSD - Duodenal/esophageal/anal atresia, TE fistula, Hirschsprungs, chronic constipation
- Hypotonia at birth, low IQ, developmental delay, hearing, alzheimers in 40 yo
- Transverse palmar, absent middle phalynx on fifth, 1% leukemia risk, polycythemia, hypothyroid
Investigations in Down
Xsomal analysis CBC Echo Thyroid Atlanto-axial Xray SLeep study Hearing test Opthalmology
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
