CONGENITAL DEFROMITIES VOL.3

Question 1

CONGENITAL TORTICOLLIS

Answer 1

• 4/1,000 live births
• with 75% involving the right side (related to left occiput anterior
presentation)
• OLIVE SIGN - A nontender, soft enlargement in the
sternocleidomastoid (SCM) muscle
• Secondary deformities including flattening of the ipsilateral face,
contralateral occipital flattening, and orbital asymmetry can be seen
• Typically, there are no spinal abnormalities or neurologic deficits.

TREATMENT
• Conservative therapy should include stretching of the tight neck
muscles as well as functional strengthening of contralateral neck
muscles by use of lateral and anterior head righting reactions.
• Directing the gaze toward the ipsilateral superior direction should also
be encouraged
• Surgical intervention should be considered when there has been no
improvement by 18 to 24 months and consists of resection of a
fibrotic SCM

Question 2

CONGENITAL SYNTOSIS OF THE CERVICAL

SPINE

Answer 2

KLIPPEL-FEIL SYNDROME
• Fusion of all/only lower vertebrae
• posterior portion of laminal arches is not developed (spina bifida)
• shortness of neck may unnoticeable, or obvious
• (+) congenital torticollis
• Trapezoid stretch winglike from mastoid process = PTERYGIUM COLLI/
WEB NECK
• X-RAY
• Surgical Intervention is necessary

Question 3

SPINAL DYRAPHISM

Answer 3

•Spinal bifida occulta - a normal variant seen in 5% to 10% of the
population, is the failure of fusion of the posterior elements of the
spine with an intact thecal sac and normal spinal cord
• Meningocele is the failure of fusion of the posterior elements with
cystic outpouching of the thecal sac filled with CSF, but with no neural
tube disruption
• Meningomyelocele is the significant disruption of all elements of the
bony spine typically with an open malformed neural tube covered by
a membranous sac.
• Spina bifida aperta which is any lesion that is open to the
environment

Question 4

NEURAL TUBE

Answer 4

• closure starts in the third week of gestation from the midcervical
level and proceeds in both cephalad and caudad directions.
• The defect of neural tube closure is thought to occur around day 26
and accounts for most lesions through midlumbar.
• 1 to 2/1,000 births
• Irish, Scottish, and Welsh, with Hispanics have a high incidence in the
US
• Serum Alpha Fetoprotein – early detection during the prenatal stage
• Fetal ultrasound along with amniocentesis – aids in diagnosis

RISK FACTORS
• Folic Acid deficiency
• 0.4 mg Folic Acid per day for child bearing women
• Drugs Valproic acid and Tegretol
• Maternal hyperthermia
• Maternal diabetes

ASSOCIATED ABNORMALITIES
• Chiari malformation type II
• is defined as downward displacement of the inferior portion of the
cerebeller vermis, the medulla, lower pons, and an elongated fourth
ventricle through the foramen magnum.
• Associated with Hydrocephalus
• include laryngeal and pharyngeal paresis – respiratory problems
• Patients are also predisposed to developing cardiorespiratory
problems
• A tethered spinal cord may be due to a lipoma, scarring at the closure
site
• Associated with deterioration in bladder and bowel function, loss of
strength or sensation, spasticity, low back pain or radicular pain
and/or rapidly progressive scoliosis
• Syringomyelia
• be due to high CSF pressure within the central canal.
• Presenting symptoms include deterioration of neurologic function,
loss of sensory and motor function in the upper limbs, and spasticity
resulting in progressive joint deformity.
• Scoliosis
• Structural scoliosis is caused by vertebral body anomalies such as
wedge or hemivertebrae, unilateral bars or block vertebrae, alone or
in combination.
• Paralytic scoliosis is secondary to loss of truncal support and is seen in
most thoracic-level patients.
• Kyphosis
• Rib malformations
• Contractures
• Neurogenic Bladder
• flaccid bladder being more common than a spastic bladder
• including horseshoe kidneys, hypolastic kidneys or renal agenesis, as
well as ureteral duplications and posterior urethral valves.
• Renal Ultrasound during infancy to check
• Surgical procedures might be necessary
• Cathetherization
• Recurrent UTI and increase tendency to form stones increase risk for
renal failure
Bowel incontinence – diet and conduits
• Skin – predispose to developing decubitus ulcers
• Latex allergy in some patients with meningomyelocele
• Male fertility may be compromised by recurrent UTI, repeated
mechanical trauma to the testicles, testicular hypoplasia, and
decreased temperature control of the scrotum resulting in decreased
sperm count.
• Decrease self esteem

SURGERY
• Done within 24 to 48 hours

REHABILITATION
• The rehabilitation program for children with meningomyelocele
begins in the newborn period.
• observation of the position of the infant, can help discern the
functional level of the patient
• Adaptive equipment in infancy is designed to allow attainment of
functional milestones at as near to normal time as possible
• At about 1 year of age, standing devices can be considered.
• Team approach and multi-faceted