Crouzon Syndrome (Craniofacial Dysostosis)
Crouzon Syndrome (Craniofacial Dysostosis)
Crouzon Syndrome (Craniofacial Dysostosis)
DYSOSTOSIS)
Rare group of syndromes characterized by
craniosynostosis or premature closing of cranial
sutures.
Caused by the mutation in fibroblast growth
factor receptor 2 (FGFR2) gene on chromosome
10q.
Inherited as an autosomal dominant trait
CLINICAL FEATURES
Premature sutural closing leads to cranial
malformation such as brachycephaly (short head)
scaphocephaly (boat shaped head) or
trignocephaly (triangle shaped head).
Severely affected patients can demonstrate a
cloverleaf skull (kleeblatt-schadel deformity).
Orbits are shallow resulting in characteristic
ocular proptosis.
Visual impairment or total blindness and a
hearing deficit may occur.
Headache due to raised intracranial pressure.
Mental deficiency.
Skull radiography shows beaten metal pattern.
Maxilla is underdeveloped resulting mid face
hypoplasia.
Occlusal disharmony
Cleft lip and cleft palate are rare.
Lateral palate swelling produce midline maxillary
pseudocleft.
Apert syndrome (acrocephalosyndactyly)
Characterized by craniosynostosis.
Caused by mutation in fibroblast growth factor
receptor 2 (FGFR2)
Inherited as an autosomal dominant trait
CLINICAL FEATURES
Acrobrachycephaly (tower skull)
Severe cases may demonstrate kleeblattschadel
deformity (cloverleaf skull)
Occiput is flattened and there is tall appearance
of forehead.
Ocular proptosis along with hypertelorism and
downward slanting lateral palpebral fissures.
Visual loss
Skull films demonstrate digital impressions
Middle third of face is markedly retruded and
hypoplastic resulting in mandibular prognathism.
Respiratory distress
Sleep apnea
Middle ear infections and hearing loss.
Limb defect help to distinguish apert syndrome
from other craniosynostosis syndrome.
Syndactyly of second, third, and fourth digits of
hands and feet.
Associated synonychia also may occur.
Fourth and fifth digits may be separate or be
joined to the middle digits.
Synostosis of adjecent phalanges
Average height of affected patient is below
general population.
Mental retardation.
Unusual acnelike eruption in most patient and
involves forearm.
Oral manifestations include trapezoid shaped
appearance of lips when relaxed
Cleft of soft palate or a bifid uvula
Maxillary hypoplasia leads to Vshaped arch and
crowding of teeth.
Class 111 malocclusion with anterior open bite
plus anterior and posterior cross bite.
Swellings along lateral hard palate from
accumulation of glycosaminoglycans aspecially
hyaluronic acid.
Shovel shaped incisors.
MANDIBULOFACIAL DYSOSTOSIS(TREACHER COLLINS
SYNDROME; FRANCESCHETTI-ZWAHLEN-KLEIN SYNDROME)