CROUZONS SYNDROME
CROUZONS SYNDROME A 3 year old female child with normal
intelligence presented in view of her different appearance with
protruding eyes, trigonocephaly[enlarged cranial vault with frontal
boosing], depressed Nasal bridge , low set ears with out any
hearing loss. Ocular manifestations such as shallow orbits
,hypertelorism, bilateral ocular proptosis. A mild degree of
midfacial hypoplasia was also present. His hands and feet appers to
be normal. these features started since childhood and severity
gradually increased. Family history revealed autosomal dominant
inheritance from her father. On fundus examination revealed chronic
papilledema features.
skull X- ray revealed abnormal skull shape,hypoplastic maxilla ,
Prominent cranial markings of the inner surface of cranial vault
seen as multiple radiolucencies appering as depressions resulting
in copperbeaten/beaten metal appearance indicating internal
remodeling of the calvaria due to an increase in intracranial
pressure as a result of premature cranial suture fusion.
CT FEATURES SHOW:Maxillary hypoplasiaWidening frontal
convexityFusion of sutures of skullDiffuse Indentations of inner
table of skull
Differential diagnosis of Crouzon's syndrome considers Apert
syndrome and other problems including Carpenter syndrome, Pfeiffer
syndrome, Seatre-Chotzen syndrome, and Jackson Weiss syndrome