Crouzon Syndrome Workup

Updated: Jul 23, 2019
  • Author: Amarateedha Prak LeCourt, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

Histopathologic examination of skin changes can reveal acanthosis nigricans.

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Imaging Studies

Imaging studies are described below. [1, 3, 4, 6, 38]

Skull, spine, and hand radiography is usually necessary to confirm the diagnosis.

Skull radiography reveals the following:

  • Oxycephaly - Acrocranium (most characteristic), obliterated sutures (mostly coronal, sagittal)
  • Deep digitate impression, shallow eye sockets (exophthalmos)
  • Turkish saddle deepened with osseous sternum connecting anterior and posterior clinoid processes
  • Shortened anterior cranial fossa
  • Cranial base deformity; develops sequentially from anterior to posterior [40]
  • Underdeveloped lateral nasal sinuses
  • Tympanic membranes fixed oblique, narrowed external auditory canals, absence of mastoid processes pneumatization, and small pyramids with symptoms of sclerosis

On spine radiography, lumbarization and the presence of bifid spinous process are possible, and slight symptoms of achondroplasia may be visible.

Radiographic examination of the metacarpal bones and fingers reveals slight achondroplasia.

Two- and three-dimensional ultrasonography have been used to screen for symptoms associated with the disorder prenatally, but genetic testing would be required to confirm the results.

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Other Tests

Other tests may include the following:

  • Ophthalmologic examination with ophthalmoscopy
  • Laryngologic examinations with audiography
  • General physical examination with ECG
  • Psychiatric examinations and psychological testing
  • Stomatologic examination
  • EEG - Low-voltage, increased convulsive excitability
  • Genetic testing
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Histologic Findings

Histologic features of acanthosis nigricans include hyperkeratosis, acanthosis, and papillomatosis. In the basal layer, the amount of pigment cells is also increased in the upper dermis. No difference exists in histologic features of acanthosis nigricans among symptomatic, benign, and malignant forms.

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