An updated pediatric perspective on the Apert syndrome
M. M. Cohen Jr and S. Kreiborg
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
This review of the Apert syndrome, based on our research experience with
136 cases, provides a clinically relevant pediatric perspective. The brain
is megalencephalic, resulting in a disproportionately high cranium and a
mean birth length and weight above the 50th percentile. The growth pattern
in childhood consists of a slowing of linear growth so that most values
fall between the 5th and 50th percentiles. From adolescence to adulthood,
slowing becomes more pronounced. Central nervous system abnormalities may
occur in some cases, including malformations of the corpus callosum and
limbic structures, gyral abnormalities, hypoplastic white matter, and
heterotopic gray matter. Distortion ventriculomegaly is found because of
the large brain in a misshapen skull. Progressive hydrocephalus is
uncommon. Intelligence in patients with the Apert syndrome varies from
normality to mental deficiency. Early release of the coronal suture and
advancement and reshaping of the frontal bone reduce further dysmorphic and
unwanted growth changes in the skull, but probably do not affect mentation.
Associated cardiovascular and genitourinary anomalies occur in 10% and 9.6%
of cases, respectively. Other important findings reviewed include upper-
and lower-airway compromise, calvarial development, cervical vertebral
anomalies, limb defects, ocular and otologic manifestations, and
dermatologic characteristics.
