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