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Congenital Malformations (i) - Coggle Diagram
Congenital Malformations (i)
= primary structural defect occuring during development of tissue/organ
NTDs
Spina bifida occulta
can be corrected with foetal surgery
failure of fusion of vertebral arch
often overlying lumbar skin lesion
tuft of hair
lipoma
birth mark
dermal sinus
may be diastematomyelia (tethering of cord)
can cause neuro deficits in bladder + LLs
neurosurgical relief required
failure of normal fusion of neural tube in 1st 28d post conception
folic acid reduces risk
anencephaly
failure of development of most of cranium + brain
TOP usually preformed
encephalocele
extrusion of brain + meninges through midline skull defect
can be surgically corrected
often underlying cerebral malformations
meningocele
no neural tissue extruding
good prognosis following surgical repair
myelomeningocele
LL paralysis
muscle imbalance
hip dislocation
talipes
sensory loss
neuropathic bladder + bowel
scoliosis
hydrocephalus due to Chiari malformation
herniation of cerebellar tonsils + brainstem through foramen magnum
80% require a shunt
physio + walking aids often needed
Cleft lip + palate
Lip
unilat or bilat
failure of fusion of frontonasal + maxillary processes
surgery can be. done in 1st wk of life
Palate
failure of fusion of palatine processes + nasal septum
repaired @ several mo old
can make feeding difficult
milk enters nose, causes coughing + choking
special teats, feeding devices, dental prosthesis may help
prone to secretory otitis media
MDT needed - ENT, plastics, paediatrician, SALT, audiologist, orthodontist
incidence = 0.8 in 1000
Mostly inherited polygenically, but some part of syndrome + some a/w maternal anticonvulsants
can be detected on antenatal US
Can be single system or a syndrome
syndromes can be due to chromo defect, single gene defect, teratogen exposure or unknown
Increased risk in multiple pregnancies
twice as frequent as singleton
4-fold increased risk in MC twins
Increased risk in IDM
6% risk (3-fold increase compared to general pop)
esp CHD, sacral agenesis (caudal regression syndrome), hypoplastic left colon
Oeso atresia
usually a/w TOF
1 in 3500 live births
presentation
polyhydramnios
persistent salivation/drooling
coughing/choking/cyanosis during feeds
milk aspiration
if suspected pass feeding tube + do x-ray to see if it reaches stomach
almost 1/2 have other congenital abnormalities - VACTERL (vertebral, anorectal, cardiac, tracheo-esophageal, renal, limb)
tx = continuous suction to avoid aspiration of saliva, urgent surgery
Exomphalos / omphalocele
abdo contents protrude through umbilical ring
covered in transparent sac formed by amniotic membrane + peritoneum
a/w other major congenital anomalies
Gastroschisis
defect = adjacent to umbilicus
no sac
not a/w other major congenital anomalies
high risk of dehydration + protein loss
wrap abdo contents in cling film
IV dextrose + colloids
tx = primary closure vs silastic sac + gradual return if large