Neonates and Congenital Abnormalities Flashcards
What is the most common cause of conjugated jaundice which requires urgent referral?
Biliary atresia
Give 3 causes of unconjugated jaundice
- Physiological
- Breast milk jaundice
- Haemolytic disease (Rhesus)
What is the definition of prolonged jaundice and how may it be treated?
Visible jaundice presenting >14 days in term baby and >21 days in preterm infant
Tx:
- Phototherapy
- Exchange transfusion
Give 4 causes of respiratory distress syndrome
- Transient tachypnoea (1st 8 hours)
- Respiratory distress syndrome (surfactant deficiency)
- Meconium aspiration
- Pneumothorax
Give 3 causes of cyanosis in a newborn
- Anything which causes respiratory distress
- Congenital cyanotic heart disease
- Tracheo-oesophageal fistula
Give 2 risks of neonatal sepsis
Premature rupture of membranes
Maternal infection (e.g. Group B strep.)
Give 4 ways in which a neonate with sepsis may present
- Collapse
- Apnoea
- Seizure
- Jaundice
What is bilious stained vomiting presumed to be until proven otherwise?
Intestinal obstruction
Give 4 common GI disorders occurring in neonates
- Meconium plug/ileus
- Duodenal atresia
- Oesophageal atresia
- Malrotation with volvulus
Define anencephaly
Portion of scalp, skull and cerebral hemispheres do not develop
Define encephalocele
Protrusion of brain and meningitis through midline skull defect
Define microcephaly
Small head due to incomplete brain development or arrest of growth
What is a sacral pit?
Dimple over the sacrum, usually benign
At what age is a cleft lip repaired?
3 months old
At what age is a cleft palate repaired?
6-12 months old
Give 3 complications of a cleft lip and/or palate
- Feeding interference
- Speech problems
- Aspiration pneumonia
What are preauricular pits weakly associated with?
Renal abnormalities
Give 3 symptoms of trachea-oesophageal fistula
- Coughing/chocking at feeding
- Abdominal distension
- Recurrent chest infections
How is a trachea-oesophageal fistula diagnosed and treated?
Dx: bronchoscopy and contrast study of oesophagus
Tx: surgery
How does duodenal atresia present and what sign is seen on abdominal film?
Bilious vomiting shortly after birth
“Double bubble” sign on AXR
What is exomphalos?
Hernia at base of umbilical cord covered by sac
What is gastroschisis?
Defect in abdomen to right of umbilicus, causing protrusion of abdominal contents not covered by sac
In exophalos/gastroschisis, why is surgical repair often done in stages?
As the abdomen is too small to hold the bowel
What is hypospadias and when is surgical repair carried out?
Urethral opening on underside of penis
Repair at 12-18 months
Give 3 presentations of imperforate anus
- Failure to pass meconium
- Bilious vomiting
- Abdominal distension
Which side do diaphragmatic hernia’s occur on 90% of the time?
Left
Give 2 presentations of a diaphragmatic hernia in neonates
Apparent dextrocardia
Respiratory distress at birth
What type of condition is achondroplasia and on which chromosome does it occur?
Autosomal dominant on 4p16
Give 4 features of an achondroplastic child
- Short limbs
- Frontal bossing
- Lumbar lordosis
- Trident hand
Give 3 facial features seen in Down’s syndrome
- Prominent epicanthic folds
- Protruding tongue
- Flat nose
Which 3 heart defects are common in Down’s syndrome?
- Atrioventricular septal defect
- VSD
- Tetralogy of Fallot
Name 3 GI conditions which Down syndrome babies are more at risk of
- Duodenal atresia
- Imperforate anus
- Hirschprung’s disease
Name 3 features seen on examination of a child with Down’s syndrome
- Hypotonia
- Single palmar crease
- Short stature
Give 3 complications of Down’s syndrome
- Increased AML/ALL risk
- Hypothyroidism
- OSA
What is Edward’s syndrome and give 3 features
Trisomy 18
- Microcephaly
- Low set ears
- Cardiac issues
What is Patau’s syndrome and give 3 features
Trisomy 13
- Holoprosencephaly
- Polydactyly
- Structural eye defects
What is Turner’s syndrome and give 3 features
Missing X chromosome
- Webbed neck
- Coarctation of aorta
- Lack of secondary sexual development
What is Klinefelter’s syndrome and give 3 features
XXY chromosome
- Infertility
- Hypogonadism
- Gynaecomastia
What is Fragile X syndrome and give 3 features
Change to gene on X
- Learning difficulty
- Long face
- Macro-orchidism
Which intrauterine infections can cause birth defects (TORCH)?
Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus Herpes simplex virus
Give 3 features of a baby with foetal alcohol syndrome
- Microcephaly
- Absent philtrum
- Learning difficulties
Give 5 teratogenic drugs
- Phenytoin
- Sodium valproate/carbamazepine
- Lithium
- Warfarin
- Tetracycline
Give 3 physical features of Prader Willi Syndrome
- Almond shaped eyes
- Small hands and feet
- Hypogonadism
Give 2 features of Prader Willi Syndrome at birth
- Hypotonia
- Feeding problems
Give 2 features of Prader Willi Syndrome in childhood
- Hyperphagia
- Obesity
