EURORAD ESR

Case 916

Pfeiffer’s Syndrome (familial acrocephalosyndactylia)

Author(s)
D. Ghysen, F. Vanhoenacker, A. De Schepper, J. Dumon
 
Patient
female, 15 year(s)
 
 
  • Figure 1
    Clinical picture
     

    Clinical picture at the age of 4: hypertelorism, flattened nasal bridge and face.

     
    Area of Interest: unknown; Imaging Technique: Clinical picture;

    Conventional radiograph of the skull lateral view at the age of 4: acrocephaly and brachycephaly, caused by premature closure of the coronal suture and shallow anterior cranial fossa.

     
    Area of Interest: unknown; Imaging Technique: Clinical picture;
     
     
  • Figure 2
    Clinical picture of the left foot
     

    Clinical picture of the left foot at the age of 4 years shows broad great toes, mild soft tissue syndactyly, varus deformity of the great toes.

     
    Area of Interest: unknown; Imaging Technique: Clinical picture of the left foot;

    conventional radiograph of the feet, AP view,taken at the age of 16 years: Trapezoid configuration of the proximal phalanx of the great toe, short and deformed first metatarsal. Variable, left-right symmetrical...

     
    Area of Interest: unknown; Imaging Technique: Clinical picture of the left foot;
     
     
  • Figure 3
    Conventional radiography of the hand at the age of 15 years

    Conventional radiography of the hand at the age of 15 years, AP view, shows brachymesophalangia with variable, left-right symmetrical symphalangism. Brachydactylia and discrete varus deformity of the thumbs and...

     
    Area of Interest: unknown; Imaging Technique: Conventional radiography of the hand at the age of 15 years;
     
     
Clinical picture at the age of 4: hypertelorism, flattened nasal bridge and face.
 
Conventional radiograph of the skull lateral view at the age of 4: acrocephaly and brachycephaly, caused by premature closure of the coronal suture and shallow anterior cranial fossa.
 
Clinical picture of the left foot at the age of 4 years shows broad great toes, mild soft tissue syndactyly, varus deformity of the great toes.
 
conventional radiograph of the feet, AP view,taken at the age of 16 years: Trapezoid configuration of the proximal phalanx of the great toe, short and deformed first metatarsal. Variable, left-right symmetrical symphalangism. Fibro-osseous fusion of the proximal end of the first two metatarsals on the left side is seen. Secondary ossification center of the first metatarsal on the right side is noted.
 
Conventional radiography of the hand at the age of 15 years, AP view, shows brachymesophalangia with variable, left-right symmetrical symphalangism. Brachydactylia and discrete varus deformity of the thumbs and clinodactylia of the little fingers. Radiological and clinical findings suggest a craniosynostosis-syndactylia syndrome. Genetical investigation revealed a Pfeiffer’s syndrome.
 
 
 
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