CROUZON SYNDROME(CRANIOFACIAL

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)

 Characterized by defects of structures derived

from first and second branchial arches.
 Inherited as an autosomal dominant trait.
 Gene for mandibulofacialdystosis has been
mapped to chromosome 5q31.3-32.
CLINICAL FEATURES
 Individuals with mandibulofacial dysostosis exhibit
characteristic faces.
 Zygomas are hypoplastic resulting in a narrow face
with depressed cheeks and downward slanting
lateral palpebral fissures.
 Coloboma a notch occurs on the outer portion of
lower eyelid.
 Half of the patients have no eyelashes medial to
coloboma.
 Sideburns show a tongue shaped extension
towards the cheeks.
 Ear may demonstrate a number of anomalies.
 Pinnae are deformed or misplaced and extra ear
tags may be seen.
 Ossicles defect and absence of external auditary
canal can cause conductive hearing loss.
 Mandible is under developed resulting in retruded
chin.
 Hypoplasia of coronoid and condylar process
with prominent antigonial notching.
 Mouth is downturned.
 Cleft palate is seen in about one third of cases.
 Parotid gland may be hypoplastic or totally
absent.
 Infants experience respiratory and feeding
difficulties because of hypoplasia of
nasopharynx, oropharynx and hypopharynx.
 Choanal atresia, larynx and trachea are often
narrow. Combined with mandibular hypoplasia
and resultant improper tongue position these
defects can lead to infants death from respiratory
complication.
HEMIHYPERPLASIA
 Rare developmental anomaly characterized by
asymmetric overgrowth of one or more body
parts.
 Also known as hemihypertrophy.
 Isolated findings but may also be associated with
other syndromes
 Cause remain obscure but the cause remain
obscure.
 Various theories include
 Vascular and lymphatic abnormalities
 Central nervous system disturbances,endocrine
dysfunctions, abbernt twinning mechanisms,
chromosomal anomalies.
 One whole side of the body may be affected or
enlargment may be limited to a single limb.
 If confined to one side hemifacial hyperplasia or
hemifacial hypertrophy.
 Conditions can occasionally be crossed involving
different areas on both sides of body.
 2:1 female to male predilection is seen
 More often on right side of body.
 Asymmetry often is noted at birth but in some
cases condition may not become evident until
later in childhood.
 Enlargment becomes more accentuated with age
especially at puberty .
 This disproportionate growth continues untill
patients overall growth ceases.
 Changes may involve all tissues on affected side
including underlying bone.
 Often skin is thickened and demonstrate
increased,pigmentation,hypertrichosis,telangiecta
sias or nevus flammeus.
 20 percent are mentally retarded.
 Increased prevalence of abdominal tumors especially
wilms tumor,adrenal cortical carcinoma and
hepatoblastoma.
 Unilateral macroglossia featuring prominent tongue
papillae
 Enlargment of other oral soft tissues and bone can occur
 Mandibular canal may be increased in size on
radiograph.
 Crowns of the teethon the effected side especially
permanent cuspids, premolar and first molar.
 Premature development of these teeth along with
precocious eruption may be obvious.
 Roots may be larger.
 Malocclision with open bite.
HISTOPATHOLOGICAL FEATURES
 Increase in thickness of epithelium.
 Hyperplasia of underlying connective tissue.s