Anencephaly, Microcephaly, &

Craniosynostosis
Pediatric Department
Atma Jaya University

ANENCEPHALY
An anencephalic infant presents a
distinctive appearance with a large defect of
the calvarium, meninges, & scalp
The cerebral hemispheres & cerebellum are
usually absent, & only a residue of the brain
stem can be identified

ANENCEPHALY
Most anencephalic infants die within
several days of birth
The incidence approximates 1/1000 live
births
The recurrence risk is approximately 4% &
increases to 10% if a couple has had 2
previously affected pregnancies

ANENCEPHALY
Many factors have been implicated as the
cause of anencephaly, including
Low socioeconomic status
Nutritional & vitamin deficiencies
Large numbers of enviromental & toxic factors

ANENCEPHALY
Approximately 50% of cases of
anencephaly are associated with
polyhydramnios.

Microcephaly
Microcephaly is defined as a head
circumference that measures more than
three standards deviation below the mean
for age & sex.

Relatively common, particularly among the

mentally retarded population

Microcephaly
May be subdivided into 2 main groups
Primary (genetic) microcephaly
Secondary (nongenetic) microcephaly

Microcephaly
A thorough family history should be taken,
seeking additional cases of microcephaly or
disorders affecting the nervous system
A very small head circumference implies a
process that began early in embryonic or
fetal development.

Microcephaly
Many children with microcephaly are
mentally retarded, so the physician must
assist with placement in an appropriate
program that will provide for maximum
development of the child

Craniosynostosis
Craniosynostosis is defined as premature
closure of the cranial sutures
Classified as
Primary refers to closure of one or more
sutures due to abnormalities of skull
development
Secondary results from failure of brain
growth & expansion (isnt discussed further)

Craniosynostosis
Incidence of primary cranisynostosis
approximates 1/2000 birth
Etiology is unknown, but genetic
syndromes accounts for 10-20% of cases

Craniosynostosis
The bones of the cranium are well developed by
the 5th mo of gestation (frontal. Parietal, temporal,
& occipital) and are separated by sutures &
fontanels
The cause of craniosynostosis is unknown but
there is a hypothesis suggests that abnormal
development of the base of the skull creates
exaggerated forces on the dura that act to disrupt
normal cranial suture development

Craniosynostosis
Clinical Manifestations
Most cases are evident at birth
Characterized by a skull deformity that is a
direct result of premature suture fusion
Palpation of the suture reveals a prominent
bony ridge

Craniosynostosis
The most common form of craniosynostosis
scaphocephaly, premature closure of the
sagital suture
Scaphocephaly is associated with a prominent
occiput, a broad forehead, & a small or absent
anterior fontanel

Craniosynostosis
The next most common form is Frontal
plagiocephaly, characterized by
Unilateral flattening of the forehead, elevation
of the ipsilateral orbit and eyebrow, & a
prominent ear on the corresponding side.
More common in female
Is the result of premature fusion of a coronal &
sphenofrontal suture

Craniosynostosis
Occipital plagiocephaly is most often a result of
positioning during infancy & is more common in
an immobile or handicapped child
Trigonocephaly is a rare form of craniosynostosis
due to premature fusion of metopic suture,
characterized by
A keel-shaped forehead & hypotelorism

Craniosynostosis
Turricephaly regers to a cone-shaped head
dute to premature fusion of the coronal &
often sphenofrontal & frontoethmoidal
sutures.

Hydrocephalus is a common complication

Craniosynostosis
The most prevalent genetic disorders
associated with craniosynostosis include

Crouzon syndrome
Apert syndrome
Carpenter syndrome
Chotzen syndrome
Pleiffer syndrome

Craniosynostosis
Craniosynostosis may be surgically
corrected with good outcomes & relatively
low morbidity & mortality.

Skull of a neonate