congenital abnormalities Flashcards
when is an antenatal screen for congential abnromalites done
18-20 weeks using US
-note not all will be evident antenatlly
otherwise to detec cogenital abnormalites 3
Immediately after birth
Routine newborn examination
Later in life due to abnormal growth or development
how can congenital abnormalities be split 5
Isolated or multiple structure abnormalities
Due to chromosomal abnormalities
Secondary to intrauterine infection
Due to teratogens
Associated with other syndromes
prophylaxis for neural tube defects 1
Folic acid supplementation maternally
define anecephaly
large portion of scalp skull and cerebal hemisphers do not devleop - caused by defect in closure of neural tube
-usually detected anetnatlly
-always fatal
define encephalocele
neural tube defect
protrusion of brain and menigens through midline defect in skulll
-usuallly assocated craniofacial abnormalities and/or other cerebral abnromalties
define microcephaly
small head due to incomplerte brain development
or arrest of brain growth
when cna microcephaly develop
present at birth or can develop over first few years of life
causes of microcephaly 4
genetic aeitiology
-TORCH infections -toxoplasmosis, others (syphilis, hepatitis B), rubella, cytomegalovirus, herpes simplex.
-maternal substance abuse
-perinatal hypoxia
define TORCH infection and what it stands for 5
also called TORCH syndrome - cause congenital abnormalities if exposed to them during pregnancy
TORCH” is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex.
symptoms of microcephaly 4
depend on severity
-OFC- occipito-frontal circumference crossing centiles
-shallow sloping forehead
-developmental delay
-seizures and short stature
describe disorders of neuronal migration
Spectrum from minor, clinically nonsignificant abnormalities to devastating brain malformations e.g. lissencephaly,
holoprosencephaly, schizencephaly, and porencephaly. May result in learning
difficulties, developmental delay, and seizures, depending on severity of
malformation. Some result in intrauterine death.
define sacral pit
dimple or indentation over sacrum
-usually benign
how to differentiate sacral pits
if base seen or below natal cleft - harmless
-if base not visible or above natal cleft
-may indicate spina bifida occulta and needs imaging
Pathophysiology of cleft lip and palate
Failure of fusion of maxillary processes
how can cleft lip and palate affect someone
can be unilateral or bilateral and involve lip and or the palate
management of cleft lip and palate 3
Immediately refer to cleft lip and palate MDT
lip repaired at three months
Palate repaired at 6 to 12 months
complications of cleft lip and palate 3
Can interfere with feeding and lead to speech problems
Psychological issues
Aspiration pneumonia
define preauricular pits
dimple or indentation and skin anterior to the tragus
what can preauricular pits be associated with 1
Weakly associated with renal abnormalities
When would you scan someone with preauricular pits 3
other dysmorphisms
maternal diabetes
Family history of deafness
define tracheo-oesophageal fistula
Communication between trachea and oesophagus
what is tracheoesophageal fistula associated with 1
Oesophageal atresia (this is often associatesd with other syndrome
how to diagnose tracheoesophageal fistula 2
Bronchoscopy
contrast studies of the oesophagus
management of tracheo-oesophageal fistula 1
Surgical correction is required
What is duodenal atresia often associated with 1
Children with Down syndrome
this is present in one third of these patients
how is duodenal atresia diagnosed and what sign as seen
Diagnosed with abdominal x-ray
Double bubble sign is seen
management (1) and prognosis of duodenal atresia
Surgical correction and prognosis is excellent
define exomphalos/omphalocoele
Hernia into the base of the umbilical cord covered by sac
what is exomphalos/omphalocoele often associated with 3
Down syndrome
Edwards syndrome
Cardiac defects
managment of exomphalos/omphalocoele and imporrtant point 1
Surgical repair
-NEEDS to be done in stages as abdomen often too small to hold the bowel
when is gastroschisis detected
usually at antenatal ultrasound
define gastroschisis
Defect in abdomen to the right of the umbilicus Protrusion of abdominal content not covered by a sac
-bowel often in poor condition, may need to be resected as part of surgical repair
managemnt of gastroschisis
surgery again needs to be done in stages as abdo to soft to hold bowel
define hypospadias
Urethral opening on underside of penis
where does hypospadias usually affect location wise
Usually on or at the base of the glans
But can be further down the shaft or on the scrotum
managemtn of hypospadias 1
what must parents do 1
surigcal repair at 12-18 months
not have their son circumcised as the foreskin is often used in repair
how does imperforate anus present 3
Failure to pass meconium
Bilious vomiting
Abdominal distension
how can imperforate anus be classfied 2
-how does this alter prognosis
low or high
low defects have better prognosis for continence
where do 90% of diaphragmatic hernias occur
on the left side
when can diaphragmatic hernias be detected 2
antenatal ultrasound
or at birth
how do diaphragmatic hernias present at birth 3
*-unknown cause
Scaphoid abdomen
Apparent dextrocardia
Respiratory distress at birth
what is the major problem with diaphragmatic hernias after surgical repair
pulmonary hypoplasia on affected side
what is the most common type of dwarfism
achondroplasia
What does achondroplasia affect
it is a disorder of bone growth
inheritance pattern of achondroplasia
autosomal dominant
what genes can be affectted in achondroplasia
gene on Chromosome 4p16
MOST - are spontaneous mutations
presentation of achondroplasia at birth 4
Short limbs
Large head with a flat midface and frontal bossing
Lumber lordosis
trident hand (persistent space between middle and ring fingers)
complications of achondroplasia 3
short stature
talipes equinovarus (club foot)
hydrocephalus
overview of polydactyly
More than five fingers or toes on any limb
Can be isolated associated with other abnormalities
refer to plastics
overview of syndactyly
Webbed fingers or toes
most commonly occurs between the second and third toes
Can often be familial
Refer to plastics
main risk factor for downs syndorme
risk increases wiht parental age
mechanisms involved in downs syndrome 3
non-disjunction (>90%)
translocation (5%)
mosaicism (1%)
blood tests fo downs syndorme 2
when are they completed
first trimester
BEta-hCG (raised in downs)
PAPP-A (low in downs)
what are bkloods tests used in conjucntion with to calculate risk of baby developing dwons syndomre
Age of parents
regarding imaging- what else is used to assess risk of Down’s syndrome 1
raised foetal nuchal transluceny at first scan
if a mother is screened psotive for downs syndrome what is she offered
chorionic villus sampling or amniocentesis
risks of miscarriage with amniocentesis
-when is it done
1%
15-20wks
risk of miscarriage with chornic villous sampling
-when is it done
1.5%
11-14wks
five facial appearances signs of downs
Prominent epicanthic folds
Upward slanting palpebral fissures
Brushfield spots on Iris (white spots)
Protruding tongue with small mouth
Small Chin Flatnose round face and small low set ears
most common congenital heart defect in downs
atrioventricular septal defect
Second most common congenital heart defect in downs
ventricular spetal defect
what are all children with Down syndrome offered after birth regarding congential heart defects 1
Echocardiogram
what other congenital heart defect is relatively common in downs 1
Tetralogy of fallot
five gastrointestinal defects that have an increased incidence/risk in downs
Hirschsprung’s disease
Duodenal atresia and imperforate anus
Umbilical hernias
GORD
Coeliac disease
five characteristics of downs on physical examination
Generalised hypotonia
Shortneck with excessive skin at nape
Brachycephaly (shortened AP skull length)
Single Palmer crease short hands and fingers and a sandal toe gap in feet
poor growth and short stature
Five neurological complications of down syndrome
Learning difficulties
Hearing impairment (recurrent otitis media)
strabismus (cross eyed), catarcts (REQUIRE REG VISION AND HEARING CHECKS)
Increased incidence of epilepsy
Atlantoaxial instability ( condition that affects the bones in the upper spine or neck under the base of the skull. The joint between the upper spine and base of the skull is called the atlanto-axial joint. In people with Down syndrome, the ligaments (connections between muscles) are “lax” or floppy)
-CAN CAUSE SPINAL CORD COMPRESSION
other complications of down syndrome 5
Significantly increase risk of acute myeloid leukaemia and acute lymphoblastic leukaemia
Hypothyroidism need annual TFTs
Recurrent respiratory infections
Obstructive sleep apnoea
Alzheimer’s disease
What trisomy is found an Edward syndrome
18
five features of Edward syndrome
Microcephaly small Chin
Low-set ears
Overlapping fingers
Rocker bottom feet
Congenital cardiac defects e.g. VSD, ASD, PDA
What trisomy is found in patau syndrome
13
Five features of patau syndrome
Holoprosencephaly - disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres.
Structural eye defects
polydactyly
Cutis aplasia skin defects
Cardiac and renal defects
Genetic change in turner syndrome
45XO -female missing X chromosome
five features of turner syndrome
Downward turned mouth downward slanting palpebral fissures
Web neck wide space nipples lymphoedema
- Coarctation of aorta +bicuspid artoic valve (aortic stenosis)
- Streak gonads, lack of secondary sexual development
- Short stature
genetic change in Klinefelter syndrome
XXY
five features of Klinefelter syndrome
- Infertility
- Hypogonadism, microorchidism.
- Gynaecomastia
- Tall stature
- Intelligence from normal to moderate learning difficulties.
five features of fragile x syndrome (X-linked dominnat)
- Long face, prominent ears, large chin.
- Learning difficulty.
- Macroorchidism
- Connective tissue problems such as flat feet, hyperflexible joints
- Behavioural characteristics, autistic behaviours, hand flapping, ADD.
of the TORCH intrauterine infections - which are most common 2
rubella
toxoplasmosis
Five features of congenital cytomegalovirus infection
- Low birth weight, microcephaly, cerebral calcification.
- Hepatosplenomegaly with jaundice
- Petechiae
- Treatment gancyclovir
- At risk for hearing loss, mental retardation, psychomotor delay, cerebral palsy, and
impaired vision
five features of congenital rubella syndrome
- Cataracts, microphthalmos
- Sensorineural hearing loss
- Thrombocytopenic purpura “Blueberry muffin rash”
- Cardiac: pulmonary artery stenosis or patent ductus arteriosus.
- Hepatomegaly
five features of congenital toxoplasmosis
- Hydrocephalus/ or microcephaly
- Chorioretinitis
- Cerebral calcification
- Cerebral palsy
- Epilepsy
five features of fetal alcohol syndrome
- Microcephaly
- Facial features: epicanthic folds, low nasal bridge, absent philtrum, thin upper lip,
and small chin - Cardiac defects, VSD, ASD
- Growth retardation, limb abnormalities
- Learning difficulties and behavioural problems
name five teratogenic drugs in pregnancy
phenytoin
Sodium valproate/carbamazepine
lithium
Warfarin
Tetracycline
features of phenytoin terotogenecy in pregnancy 4
cleft lip/ palate
Cardiac defects
Hypoplastic nails
Craniofacial abnormalities
features of sodium valproate/carbamazepine terotogenecy in pregnancy 1
Neural tube defects
features of lithium terotogenecy in pregnancy 1
Ebstein’s anomaly - tricuspid valve is in the wrong position and the valve’s flaps (leaflets) are malformed.
features of warfarin terotogenecy in pregnancy 5
Frontal bossing
Cardiac defects
Microcephaly
Nasal hypoplasia
Epiphyseal Stippling
features of tertracycline terotogenecy in pregnancy 1
Discolouration of teeth
Five features of Prader Willi syndrome
- At birth - hypotonia, feeding problems, hypogonadism
- Later failure to thrive, scoliosis
- Hyperphagia and obesity
- Developmental delay and learning difficulties
- Physical appearance: almond shaped eyes, pale skin and light hair, small hands
and feet with hypogonadism
