Congenital Abnormalities Flashcards
At what points in a futus/baby development may a congenital abnormality become apparent?
Antenatally (either downs screening on 20 week scan)
Immediately at birth
At routine new born examination
Later in life due to abnormal growth or development
What are the 6 most common congenital abnormalities of the Central Nervous System?
Anencephaly Encephalocele Microcephaly Disorders of Neuronal migration Spina Bifida Sacral Pit
Describe the definition and features of Anencephaly
Lare proportion of scalp, skull and hemispheres not present. Usually detected antenatally. Always fatal. Caused by defect in neural tube closure .
Maternal pre-conception folic acid could prevent about 70% of neural tube defects.
Describe the features of encephalocele
neural tube defect where brain and meninges protrude through midline defect in skull. Associated with crania-facial abnormalities
Describe the definition and features of microcephaly
Small head due to incomplete brain development or arrest of growth. Present at birth or can’t develop within first few years of life. Occipital-frontal circumference will be in the lower centiles, usually causes developmental delays, seizures and short stature
What are the causes of microcephaly?
Usually genetic.
May be TORCH infections
Maternal substance abuse
perinatal hypoxia
Give 3 example of disorders of neuronal migration
Holoprosencephaly - forebrain fails to split into 2 hemispheres
Schizencephaly - abnormal clefts of grey matter line the ventricles
porencephaly - cysts or cavities within the cerebral hemispheres
in a neonate what is a sacral pit?
A dimple in skin over the sacrum. Usually benign. Harmless if skin at base of dimple or it is below natal cleft. imagine later on if worried
Give 3 common congenital abnormalities of ENT
Cleft lip or palate
Preauricular pits
Preauricular tags
Give 3 facts about pre auricular pits
A dimple anterioir to tragus
Loose association to renal disease
Only scanned if other abnormalities or FHx of deafness
what are pre auricular skin tags
totally benign
some parents worried about cosmetic
Give 5 significant congenital abnormalities of the gastrointestinal system
Tracheo-oesophageal fistula Duodenal atresia Exomphalos/omphalocele gastroschisis Imperforate anus
Describe 4 features of hypospadias
Urethral opening on ventral aspect of penis
usually near glans but can be anywhere on midline to scrotum
surgical repair done at 12-18 months
Not allowed to be circumcised
what is tracheo-oesophageal fistulas
communication between trachea and oesophagus
What congenital conditions is tracheo-oesophageal fistula associated with?
oespophageal fistual and many syndromes
How does trachea-oesophageal fistula present?
coughing
choking
poor feeding
chest infection
How is an trachea oesphageal fistula repaired?
surgically
How common is duodenal atresia?
1 in 5000 births
What common congenital condition is duodenal atresia associated with?
Downs Syndrome
What is the incidence of cleft lip and palate?
1 in 1000 live births
What is the congenital cause of cleft lip and palate?
failure of fusion of the maxillary process
How old will a child be when cleft lip is repairred?
3 months old
At what age would you repair a cleft palate?
6-12 months old
What complications can arise from a cleft lip or palate?
poor feeing
Speech problems
aspiration pneumonia
How does duodenal atresia present?
Bilious green vomitting at birth
What is the classic sign seen on x-ray in duodenal atresia?
double bubble sign
What is Exomphalos
Hernia into the base of the base of the umbilical cord covered by a sac
What other malformations in exomphalos associated with?
trisomes 13 and 18 and cardiac defects
What is the treatment of exomphalos?
surgucal repairs. often done in stages are the abdomen is too small
What is the other name for exomphalos?
omphalocele
What is the incidence of gastroschisis?
1 in 3000 and is increasing
What is gastroschisis?
Defect in the abdomen to the right of the umbilical cord, similar to exomphalos but without a sac coveriing - meaning that there may need to be resection of the bowel on repair
What is the incidence of an imperforate anus?
1 in 5000 live births
What is the presentation of imperforate anus?
found on neonatal check, billions vomitting, abdominal distention
Where are diaphragmatic hernias most likely to occur?
90% are on the left side
What is a scaphoid abdomen and what neonatal condition are you most likely to find it in?
When there is a sunken concave appearance to abdomen most commonly found in diaphragmatic hernia
How will diaphragmatic hernia present?
at birth where neonate has spaced abdomen, apparent dexacardia and respiratory distress
Name 3 commonly seen congenital abnormalities of the musculoskeletal system
Achondroplasia
Polydactyly
Syndactyly
What is Achondroplasia?
a disorder of bone growth which causes the most common type of dwarfism
What are the genetic features of achondroplasia?
an autosomal dominant condition which is caused by mutation to Ch 4p16
What are the physical features of achondroplasia?
short limbs large head flat mid face frontal bossing lumbar lordosis trident hand
in achrondroplasia what is ‘trident hand’
persistent space between middle and ring fingers
What is polydactyly
More than 5 fingers or toes on any limb
How is polydactyly treated?
refer to plastic surgeons for reapir
What is syndactyly?
Webbed fingers or toes
What is Trisomy 18?
Edwards syndrome
Give 5 features of Edwards syndrome
microcephaly low set ears small chin (micrognathia) overlapping fingers Rocker Bottom feet Cardiac - ASD VSD PDA
What is the medical term for congenital small chin?
micrognathia
What is trisomy 13 called?
Patau’s Syndrome
Give 5 features of Patau’s syndrome
Holoprosencephaly Structural eye defects polydactyly Cutis Aplasia Cardiac and renal defects
What is Turners Syndrome/?
45XO
Give 5 features of Turners syndrome
Webbed neck, short, wide nipples
Downward turned mouth, downward slapping palpebral fissures
Coarctation of aorta
Streak gonads, lack of secondary sex features
Normal intelligence
What is the chromosomal abnormality in Klinefelter’s Syndrome
XXY
Give 5 features of Klinefelter’s syndrome
infertility hypogonadism, microgonadism Gynaecomastia Tall stature Intelligence from normal to moderate LD
What is fragile X syndrome?
An X linked dominant condition causing learning difficulties
Give 5 features of fragile X syndrome
Long face, prominent ears, large chin
Learning difficulty
Connective tissue problems
Autistic tendencies/ ADD
What are the 5 most common intrauterine infections?
Toxoplasmosis Other (syphilis) Rubella Cytomegalovirus Herpes Simplex Virus
Give 5 features of the neonate born with congenital cytomegalovirus infection
Low BW, microcephaly
hepatomegaly with jaundice
Petechiae
What is the treatment for congenital cytomegalovirus infection?
gangcyclovir
What are the complications which can arise form congenital cytomegalovirus infection
hearing loss
Mental retardation
psychomotor delay
impaired vision
What is the characteristic rash found in congenital rubella infection?
blueberry muffin rash - thromocytopenic purpura
What are the problems which can present in a baby infected with congenital rubella?
micropthalmos catarcts hearing loss PDA hepatomegaly
