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Type:
Educational Exhibit
Keywords:
Pathology, Genetic defects, Epidemiology, Education, Diagnostic procedure, MR, CT, Conventional radiography, Paediatric, Neuroradiology brain, Head and neck
Authors:
Z. Grodzicka; Olsztyn/PL
DOI:
10.1594/ecr2015/C-0288
Background
Crouzon syndrome is characterized by pre-mature obliteration and ossification of sutures in an infant skull (craniostenosis) assosciated with midfacial hypoplasia and orbital deformities.
The term cranisostenosis was introduced by the great German pathologist Virchow in 1851. He discovered that the skull growth is arrested in perpendicular direction to the closer suture and compensatory overexpansion takes place in the parallel direction to the closer suture.
He also was the first person to classify the different types of skull deformity seen in persons with craniosynostosis and to introduced morphological descriptive terms which are still in use today. 1
Then the term craniosynostosis was invented .
Technically,
craniosynostosis is the process of premature sutural fusion,
and cranistenosis is the result.
Nowadays,
both terms are used interchangeably.
Crouzon syndrome was named after Octave Crouzon,
a French physician who first described the disturbance in a mother and son with abnormal facial features in 1912.
He noticed the triad of calvarial deformities,
facial anomalies,
and exophthalmos.2
Crouzon syndrome is an autosomal dominant genetic disorder with complete penetrance and variable expressivity.3 Both genders are equally affected.
It is caused by mutation in the gene encoding fibroblast growth factor receptor-2 (FGFR2),
which is located on the long q arm of 10 chromosome on position 26.
So far at least 40 mutations have been found. The fibroblast growth factor receptor-2 is a protein involved in important processes such as cell division,
regulation of cell growth and maturation,
formation of blood vessels,
wound healing,
and embryonic development.
Molecule studies show also that FGFR2 mutations are responsible for premature ossification of the calvarium during featal development. 4
It represents approximately 4.8% of cases of craniosynostosis at birth,
this condition is seen in about 16,5 person on million newborns.
A positive family history is reported to occur between 40-70% of cases.5
In addition to skull deformation,
we observe acanthosis nigricans in 5% of patients with Crouzon syndrome. It is a skin condition characterized by thick,
dark,
velvety skin in body folds and creases,
including the neck and underarms.
In these cases Crouzon syndrome is caused by a specific missense mutation in the gene encoding fibroblast growth factor receptor-3 (FGFR3) gene located on short arm of 4 th chromosome on position 26.
Some authors consider it to be a distinct disorder and called Crouzonodermoskeletal syndrome or Crouzon Syndrome associated with acanthosis nigricans.6