Congenital malformations Flashcards
Give examples of neural tube defects
Spina bifida occulta
Meningocele
Myelomeningocele
Anencephaly
What is spina bifida occulta and what is the complication
Failure of fusion of the vertebral arch (may be seen on X-ray)
Tethered spinal cord syndrome: fixation of the inelastic caudal spine tissue => abnormal movement of spinal cold as child cord
Meningocoele or myelomeningocoele
What are the symptoms and signs of spina bifida occulta
overlying skin lesion - tuft of hair, lipoma, birth mark or dermal sinus
Lower back pain (worsens with activity)
Gait disturbance
Scoliosis
High arched feet
Neurological disturbance
How is spina bifida occulta treated
Surgery to untether the spinal cord
What is a meningoceoele
Herniation of the meninges through an unfused portion of the vertebrae (spina bifida occulta) → sac containing CSF
Does not contain neural tissue → normal neuro
Sac may rupture → meningitis, hydrocephalus
What is a myelomeningocoele
Spinal cord herniates through an unfused portion of the spinal column (spina bifida occulta)
Neuro complications: paresis, talipes, neuropathic bowel/ bladder and hydrocephalus
What is anencephaly
Failure to develop most of cranium and brain
What is the different between cleft lip and palate
Cleft lip = failure of fusion of the frontonasal and maxillary processes
Cleft palate = failure of fusion of the palatine processes and nasal septum
S/S of cleft palate
Feeding difficulties: suckling may be compromised by the loss of an oral seal
Airway difficulties: prolapse of the tongue through the cleft into the nasal cavity, especially if associated with mandibular hypoplasia (Pierre Robin Sequence*)
Nasal reflux of liquid or food: in partial clefts of the soft palate
Hypernasal speech or nasal emission- may be detected later, especially in submucosal clefts
Management for cleft palate
MDT: craniofacial surgeons, paediatricians, orthodontists, audiologist, speech therapist
Surgical repair:
- Lip at 3 months
- Palate at 6-12 months
Special teats and feeding devices
Regular montioring for hydration and nutrition
Orthodontic advice and dental prosthesis
Support: cleft lipi and palate association
Complications of cleft palate and lip
Secretory otitis media (glue ear)
Acute otitis media
Susceptibility to colds
Hearing loss
Dental cavities, displaced teeth
Poor speech
Poor feeding, failure to thrive
What is talipes equinovarus
The foot is inverted and supinated, the forefoot is adducted and the heel is rotated inwards in plantar flexion
Bilateral, or affected foot is shorter and calf muscles thinner
1 in 1000 births, M>F
What is the treatment for talipes equinovarus
Months
Successful outcome for most
How do you differentiate positional talipes from equinovarus
Positional talipes – the feet often remain in their in utero position. Unlike true talipes equinovarus, the foot can be fully dorsiflexed to touch the front of the lower leg
What is phimosis
a foreskin that is pathologically non-retractile (cannot be pulled back)
What is the most common cause of phimosis
balanitis xerotica obliterans (BXO) = progressive scarring that my extend onto the glans
Risk fo scarring spreading to the urethra