Crouzon Syndrome Clinical Presentation

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

History

History findings are described below. [1, 3, 6]

Bony face deformity is observed at birth, followed with time by other factors of the syndrome.

Patients report headache.

Convulsions often occur; mental retardation is frequently observed.

Visual acuity is reduced.

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Physical Examination

Physical examination findings are described below. [1, 3, 4, 6, 25, 26, 27, 28]

Coronal and sagittal sutures are obliterated; fontanels remain not obliterated and pulsating for a long time.

Lateral and anteroposterior flattening of the acrocranium is observed, growing only at the vertical axis.

Anteroposterior diameter is smaller than transverse diameter.

The forehead is high and wide.

Wide face and hypoplastic maxilla producing pseudoprognathism are observed. See an example shown below.

Deviation of the nasal septum, narrowed or obliterated anterior nares, and wide beaked nose are present.

Hypertelorism, divergent squint, eyelid scheme antimongoloid, shallow orbits, and upper eyelid falling "frog face" are observed. See the image shown below.

Acrocephaly, beaked nose, "frog face," and pseudop Acrocephaly, beaked nose, "frog face," and pseudoprognathism of Crouzon syndrome.

Proptosis has been observed.

The upper lip is shortened and sometimes cleaved.

Malocclusion, malposed teeth, hypsistaphylia (narrow/high-arched palate), rhinolalia, and dysphasia are noted (as depicted below).

Malposed teeth and acanthosis nigricans around the Malposed teeth and acanthosis nigricans around the mouth in Crouzon syndrome.

Hypodontia may occur.

Characteropathy is often observed.

Short stature and no physiologic spinal curvature are observed. Children are straight as a reed. Refer to the following images.

No physiological spinal curvature is observed in C No physiological spinal curvature is observed in Crouzon syndrome.
Short stature and dark skin of Crouzon syndrome. Short stature and dark skin of Crouzon syndrome.

Koilosternia rarely occurs.

Skin usually is dark.

Syndromic acanthosis nigricans appears in the axillary fossa, mouth angular, and on the lips in childhood.

In a rare case study, deep linear creases on the lips, ear lobes, palms, and soles of the feet were observed, along with redundant skin on the scalp. [29]

In lieu of an in-person physical examination, some phenotypic assessment tools based on standardized photographs can be used to evaluate patients with general craniofacial microsomia. [30]

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Complications

Several complications can arise from Crouzon syndrome as result of its characteristic external and internal malformations.

Papilledema may occur due to intracranial hypertension. [5]

There is a high prevalence of cerebrospinal fluid rhinorrhea. [31]

Progressing optic nerve atrophy leads to vision impairment because of the intracranial hypertension.

One case study of a younger patient found that spontaneous prolapse of the eyeball due to rubbing occurred when shallow orbit and proptosis were present. [32]

Impairment of hearing indicates disorders of the middle ear or, according to one case study, atresia of the external auditory canals. [33]

Psychological and sociobehavioral issues have resulted from social stigmas associated with visible manifestations of craniosynostosis. [19, 22, 23, 24]

Developmental and cognitive disabilities have been correlated with intracranial pressure from untreated craniofacial malformations (eg, cranial vault abnormalities). [33, 34]

The incidence of chronic tonsillar herniation (eg, Chiari malformation type I) is correlated highly with Crouzon syndrome. [35, 36]

Neurolinguistic abilities may be affected as a result of craniosynostosis. [37]

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