Chromosomal abnormalities Flashcards
What are the clinical features of Down’s syndrome
Face: Upslanting palpebral fissures, epicanthic folds, brushfeild spots in iris, protruding tongue, low set ears, round/flat face.
Flat occiput.
Single palmar crease.
Hypotonia.
Congenital heart defects.
Duodenal atresia.
Hirschsprung disease
What are the cardiac complications of Down’s syndrome?
Endocardial cushion defect (most common).
VSD.
Secundum atrial septal defect.
Tetralogy of fallot.
Isolated patient ductus arteriosus.
What are some of the later complications of downs syndrome?
Subfertility - men almost always infertile, women subfertile.
Learning difficulties.
Short stature.
Repeated respiratory infections and ottitis media.
ALL.
Hypothyroidism.
Alzheimer’s disease
Atlantoaxial instability
Management of Down’s syndrome?
Must involve a MDT.
They require 2 yearly thyroid checks and regular audiology and optician review.
Name 5 GI defects in down’s?
Increased risk of hirschprung disease, duodenal atresia/imperfoated anus, umbilical hernia, GORD and coeliac disease
5 neuo complications of downs syndrome?
Learning difficulties,
Hearing impairment,
Strabismus, cataracts,
Epilepsy,
Atlanto-axial instability
Features of Edwards syndrome?
Microcephaly,
Low set ears,
Overlapping fingers,
Rocker bottom feet,
Cardiac defects.
Features of Patau’s syndrome?
Holoprosencephaly,
Structural eye disease,
Polydactyly,
Cutis aplasia (skin defects),
Cardiac and renal defects
Features of turners syndrome
Downward-turned mouth and downward slanting palpebral fissures.
Webbed neck, wide spaced nipples and lymphodema,
Coarctation of aorta,
lack of secondary sexual development,
Short stature
Features of Klinefelter’s syndrome?
- Inferility
- Hypogonadism, microorchidism.
- Gynaecomasia
- Tall stature
- Intelligence from normal to moderate learning difficulies
Features of fragile x syndrome?
- Long face, prominent ears, large chin.
- Learning difficulty.
- Macroorchidism
- Connective tissue problems such as flat feet, hyperflexible joints
- Behavioural characterisics, auisic behaviours, hand flapping, ADD
Teratogenic effects of phenytoin?
Cleft lip/palate
Cardiac defects,
Hypoplastic nails,
Craniofacial abnormalities
Teratogenic effects of sodium valproate/carbamazepine
NTDs
Teratogenic effects of lithium
Ebstein’s anomaly
Teratogenic effects of warfarin
frontal bossing,
cardiac defects,
microcephaly,
nasal hypoplasia,
epiphyseal stippling.
