Topic 9: Structural
Developmental Anomalies
Sally Jane Uy, MEd, MBAH, OTRP, OTR
Senior Lecturer
1. Spina Bifida
2. Hydrocephalus
3. Arnold Chiari Malformation
4. Microcephaly
5. Arthrogryposis multiplex congenita
Outline 6. Syndactyly/Polydactyly
7. Sprengel’s deformity
8. Genu varum/ Genu valgum
9. Talipes equinovarus
Second most common disability in children
Spina bifida
(Spinal Dysraphism)
Spinal bifida occulta: Failure of fusion of the posterior
elements of the spine with an intact thecal sac and
normal spinal cord
Mengingocele: Failure of fusion of the posterior
elements with cys8c-outpouching of the thecal sac filled
with CSFF, but with no neural tube disrup8on.
Meningomyelocele : significant disruption of all elemets
of the bony spine typically with an open malformed
neural tube covered by a membranous sac. ; there are
variable degree of neurological deficits.
Etiology/Pathology
• The defect of neural tube closure is thought to occur around day
26 and accounts for most lesions through midlumbar.
• The incidence of neural tube defects worldwide is approximately
1 to 2/1,000 births
• The incidence is decreasing worldwide and is felt to be due to
several factors including better prenatal diagnosis and
termination of the pregnancy, better nutritional support, and the
use of folic acid and fortification of foods with folic acid
Genetic Influence Environmental Influence
• Genetic mutations have a significant • Hyperthermia during early pregnancy, the
impact on CNS development first 28 days during neurulation, has been
shown to increase the incidence
• A variation (C677T) in the gene coding.
for 5,10-methylenetetrahydrofolate is
associated with a 70% increased risk of • Increases in NTD risk have been noted for
spina bifida occupations involving exposure to
solvents (eg, painters, industrial process
workers,etc.). Health care, agricultural,
and transportation workers have also
been noted to have an increased NTD risk
Nutritional influences
• Lowered intake of foods containing folate in the diet
• Mandatory supplementation of folate in grain products in the
United States has caused a steadily declining NTD incidence
• Maternal obesity and concomitant diabetes
Impact on Child Development
• First 6 months: head control, fine motor skills and language may be affected for infants
with myelomeningocele in light of hydrocephalus, Chiari II malformation, and other
medical complications
• 6-12 months: gross motor development may be affected ( sitting, crawling and walking)
• Cognitive Function : most individuals with spina bifida will have some type of
neuropsychological sequelae and this may be related to structural changes within the
brain along with hydrocephalus
• Ambulation/Mobility: need for orthotics
• Self-Care: age-appropriate ADL skills
• Obesity: can be problematic…thus should be prevented
• Sexuality and Sexual/Reproductive function : teens and adults
• Functional vocational planning/employment options
• Recreation and leisure pursuits
Issues
• Neurologic Abnormalities
• Chiari malformation type II
• Hydrocephalus, requiring ventribuloperitoneal shunting
• Deterioration in bladder and bowel functions
• Loss of strength or sensation
• Spasticity
• Low back pain or radicular pain
• Rapidly progressive scoliosis
• Orthopedic Issues
• Structural and/or paralytic scoliosis
• Hip dysplasia
• Clubfoot
• Genitourinary
• Flaccid bladder more common than spastic bladder
• Self-catheterization can be taught by age 5
Hydrocephalus
• Hydrocephalus occurs in 80% to 90% of patients. A “cork in the
bottle” phenomenon, related to the abnormal placement of the
above-mentioned structures through the foramen magnum,
aqueductal stenosis, and a defect in CSF uptake are all
causative factors. More than 80% of children require
ventriculoperitoneal shunting.
Arnold-Chiari Malformation
• The Chiari malformation type II, seen in 90% of patients, 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. There is
also an associated kinking of the medulla.
Microcephaly
• Microcephaly is a birth defect where a baby’s head is smaller than expected
when compared to babies of the same sex and age. Babies with microcephaly
often have smaller brains that might not have developed properly.
• about 1 in every 800-5,000 babies is born with microcephaly in the United States.
• Microcephaly has been linked with the following problems:
[Link]
[Link] delay, such as problems with speech or other developmental
milestones like sitting, standing, and walking
[Link] disability (decreased ability to learn and function in daily life)
[Link] with movement and balance
[Link] problems, such as difficulty swallowing
[Link] loss
[Link] problems
Arthrogryposis
multiplex congenita
• Arthrogryposis multiplex congenita refers to a
symptom complex characterized by multiple joint
contractures that are present at birth
• The incidence of arthrogryposis as a whole is
approximately 1 per 3,000 live births
• Common deformities of the upper extremities include adduction; internal rotation
contractures of the shoulders; fixed flexion or extension contractures of the
elbows, either wrist flexion and ulnar deviation or extension and radial deviation;
and thumb-in-palm deformities. In the lower extremities, flexion, abduction, and
external hip rotation contractures with unilateral or bilateral dislocations are noted
• Outcomes appear better if joint surgery is completed prior to the age of 6 to avoid
adaptive intra- articular changes
Syndactyly
Syndactyly (webbed
phalanx) occurs in
approximately 1 in
2,200 births,
Polydactyly
Polydactyly ( extra finger)
has an incidence of
approximately 1 to 1.5 per
1,000 live births and is the
most common congenital
toe deformity
Sprengel deformity
• The most common congenital shoulder abnormality
is a Sprengel deformity
• It is a failure of the scapula to develop and descend,
causing it to appear hypoplastic and abnormally
high on the back.
Genu varum and valgus
• Genu valgum, or “knock- • Genu varum or “bow-legged”
knees,” is a concern in
children who are developing
peak valgus alignment
around the ages of 3 to 4
years
Talipes equinovarus (Clubfoot)
• A.k.a. “clubfoot”
• overall incidence 1:1,000, though some populations 1:250
• Treatment:
• Ponsetti method
• Casting of foot every week for 5-8 weeks
• Denis-Browne splint : first 3 months, then overnight until they're 4 or 5 years old.
Thank you!
suy@[Link]