Apert syndrome

Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Panoramic view. a An Apert syndrome patient, a 9-year-old male, with an upward convex palatal plate (arrows) and a short and thin nasal septum (arrow heads). Noted the severe anterior open bite (*). b A 9-year-old normal male with normal horizontal palatal plate (arrows) and a long and thick nasal septum (arrow heads)
jkamprs.springeropen.com • CC-by-4.0
Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Water’s view: An Apert syndrome patient (a), a 9-year-old male, showed a shorter zygomatico-maxillary width and a shorter and thinner nasal septum than a 9-year-old normal male (b)
jkamprs.springeropen.com • CC-by-4.0
Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Cephalogram: a An Apert syndrome patient, a 9-year-old male, noted with retained suture wires for distraction osteotomy performed at 6 months after birth. b A 9-year-old normal male. c overlapping cephalogram panels a and b by adjusting to the SN line. The Apert syndrome patient showed an increased posterior-anterior cranial base angle (angle PC-S-AC), a retruded maxilla, and a counter-clockwise growth of the mandible compared to the control
jkamprs.springeropen.com • CC-by-4.0
Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Posterior to anterior (PA) view. a An Apert syndrome patient, a 9-year-old male. b A 9-year-old normal male. c Overlapping panels a and b by adjusting the line between the bilateral jugular points. The Apert syndrome patient showed orbital hypertelorism, less descended nasal floor, and downward growth of the mandible compared to the control
jkamprs.springeropen.com • CC-by-4.0
Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Basal cranial view. a An Apert syndrome patient, a 9-year-old male. b A 9-year-old normal male. c Overlapping panels a and b. The Apert syndrome patient showed increased zygomatic axis angle of the cranial base (angle Z1-S-Z2) and decreased otic axis angle of the cranial base (angle O1-Oc-O2) compared to the control
jkamprs.springeropen.com • CC-by-4.0
Aberrant
growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. Coronal sutures in PA X-ray views. a A 9-year-old normal male with still immature coronal suture (arrows). b An Apert syndrome patient, a 9-year-old male, with tightly interdigitated coronal suture (arrows) similar to that of a 30-year-old normal male (c)
jkamprs.springeropen.com • CC-by-4.0
The spectrum
of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Age 10.8. Panoramic x-ray. Situation after extrusion of upper central incisors. Lack of space for 13, 23, 38, 33, 43, and 48; transposition of 22 and 23, second (supernumerary) canine in region 24, agenesis of 25. Ectopic position of 27.
head-face-med.biomedcentral.com • CC-by-2.0
The spectrum
of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Age 13.2. Panoramic x-ray. Congenitally missing tooth 28 and impacted teeth 18, 17, 14, 13, 23, 27, 38, 33, 43 and 48. Because of extreme crowding, impaction, and space discrepancy, extraction of teeth 17, 14, 13, 23, 38, 33, 43, and 48 were considered. Tooth 18 will be left in place because of its malposition.
head-face-med.biomedcentral.com • CC-by-2.0
The spectrum
of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Age 14.3. Panographic x-ray. Situation after extraction of 21 due to internal resorption at age 13.5. Situation after surgical removal of 18 and 28 and surgical exposure and bonding of 17, 23, and 27; before attempting orthodontic extrusion of 17, 23, and 27. Note severe idiopathic resorption of teeth 24 and 25.
head-face-med.biomedcentral.com • CC-by-2.0
The spectrum
of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Left: age 18.2. Panographic x-ray 5 months before surgery. Right: age 18.6. Tracing of lateral x-ray before orthognathic surgery.
head-face-med.biomedcentral.com • CC-by-2.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.

Epidemiology

The estimated incidence is 1 case per 65-80,000 pregnancies.

Risk factors
  • increased paternal age has been proposed
Associations

Clinical presentation

Apert syndrome was originally described as a triad of:

However, other features may include:

Pathology

Thought to occur from a defect on the fibroblast growth factor receptor 2 (FGFR2) gene, located on chromosome 10q26. It can be inherited as an autosomal dominant trait, although most cases are thought to be sporadic.

Radiographic features

There are many abnormalities which may be visible on imaging including :

  • craniofacial
  • limb
    • syndactyly (tends to be complex)

Other more subtle features which may be evident include tower-shaped head and prominent forehead, hypertelorism and exophthalmos.

History and etymology

It is named after Eugene Apert (1868–1940) , French pediatrician, who described it in 1906, although some reports suggest it was first described by Wheaton in 1894 .

Differential diagnosis

The differential includes other forms of acrocephalosyndactyly and acrocephalopolysyndactyly:

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Apert-Syndrom:
Crouzon-Syndrom
 
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