Congenital Abnormalities Flashcards
What are the major risk factors for having a child with chromosomal abnormalities?
Maternal age increased risk in over 30's TORCH infections Toxins (smoking, alcohol, medications) Hyperglycaemia in early pregnancy Dietary deficiencies (folic acid)
What is downs syndrome?
Trisomy 21
The syndrome is characterised by dysmorphic features, learning difficulties and a host of structural abnormalities.
What are the dysmorphic in downs syndrome?
Face: Brachycephaly. Prominent epicanthic folds. Ring of iris speckles - Brushfield's spots. Ears set low. Flat nasal bridge.
Loose skin on neck.
Hands and feet:
Single palmar crease
Wide gap between hallux and second toe
What are the associated conditions with downs syndrome?
Congenital heart defects:
VSD (is most common)
AVSD (extremely rare in children without downs therefore if AVSD is present on fetal scans downs until proven otherwise)
Ophthalmology:
Cataracts
Refractive errors
Strabismus
Gastro: Duodenal atresia Oesophageal atresia Hirschsprung's Meckel's diverticulum Coeliac
Endocrine:
Hypothyroidism
MSK:
Hyper-reflexive
Scoliosis
Foot deformities
Haematological:
Increased risk of infections
Higher incidence of AML and ALL
What is the CHARGE syndrome?
A genetic syndrome in which the acronym describes the unusual congenital abnormalities that are often seen.
Coloboma of the eye (hole in a structure of the eye) Heart defects Atresia of the nasal choanae Retardation of growth Genito-urinary abnormalities Ear abnormalities and deafness
What is the VACTERAL syndrome.
A genetic syndrome in which the acronym describes the unusual congenital abnormalities that are often seen.
It is more commonly associated with diabetic mothers and trisomy 18.
Vertebral defects (hypoplastic vertebrae/scoliosis) Anal atresia Cardiac abnormalities Tracheoesophageal fistula Esophageal atresia Renal anomalies Limb defects
Many will have a normal development.
Incidence 16 per 100000
What is Patau’s syndrome?
Trisomy 13
It is the most rare and severe of the trisomies.
Characterised by:
• IUGR
• Congenital heart defects
- Holoprosencephaly (brain doesn’t separate into 2 halves)
- Neural tube defects
- Severe learning disability
- Small eyes (microphthalmia)
- Scalp defects
- Gastrointestinal and urogenital malformations
- Polydactyly
How long do children with Patau’s survive and what is the usual cause of death?
Mean survival = 2.5 days
Many do not survive to birth.
Cause of death is often CHD and pneumonia.
What is the clinical spectrum of fetal alcohol syndrome?
Syndrome consisting of 3 main domains but may cause other abnormalities:
- Facial abnormalities (especially in the mid-facial area)
- IUGR and failure to catch up
- Learning disabilities and impulsiveness.
Alcohol can cause the above to a varying degree as well as:
- Cardiac defects
- MSK and urogenital defects
- Delirium tremens due to dependence
What are the dysmorphic features seen in fetal alcohol syndrome?
- Flat philtrum
- Micrognathia (small jaw)
- Thin upper lip
- Posterior rotation of ears
- Microcephaly
- Microphthalmia