Updated: 10/12/2016

Apert Syndrome

Topic
Review Topic
0
0
Questions
3
0
0
Evidence
4
0
0
https://upload.orthobullets.com/topic/6078/images/xray - rosebud hand - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo_moved.jpg
https://upload.orthobullets.com/topic/6078/images/apert facies..jpg
https://upload.orthobullets.com/topic/6078/images/apert hands..jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - rosebud hand - colorado_moved.jpg
Introduction
  • Syndrome characterized by 
    • bilateral complex syndactyly of hands and feet
      • index, middle, and ring fingers most affected
    • symphalangism
    • premature fusion of cranial sutures (craniosynostosis) results in flattened skull and broad forehead (acrocephaly)
    • hypertelorism (increased distance between paired body parts, as in wide set eyes)
    • normal to moderately disabled cognitive function
    • glenoid hypoplasia
    • radioulnar synostosis
  • Genetics
    • autosomal dominant, but most new cases are sporadic
    • mutation of FGFr2 gene 
  • Epidemiology
    • incidence is 1/80,000 live births
  • Prognosis
    • spectrum of normal to moderately disabled cognitive function
Presentation
  • Physical exam 
    • dysmorphic face 
      • craniosynostosis results in flattened skull and facial features
    • rosebud hands (complex syndactyly where the index, middle, and ring finger share a common nail)  

Imaging
  • Radiographs
    • will show complex syndactyly
Treatment
  • Operative
    • surgical release of border digits 
      • indications
        • perform ~ 1 year of age
    • digit reconstruction
      • indications
        • perform ~ 1.5 years of age
      • to convert central three digits into two digits 
 

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Questions (3)

(OBQ12.251) An infant is brought to your office for evaluation of his hands. Clinical photos are shown in Figures A and B. The clinical features are most consistent with a genetic mutation in which of the following: Review Topic

QID: 4611
FIGURES:
1

Sonic Hedgehog (SHH)

34%

(1268/3742)

2

FGFR2

40%

(1495/3742)

3

FGFR3

12%

(465/3742)

4

PMP22

7%

(261/3742)

5

COL1A1

6%

(223/3742)

ML 5

Select Answer to see Preferred Response

PREFERRED RESPONSE 2

(OBQ07.142) Apert's syndrome is caused by a mutation in what gene? Review Topic

QID: 803
1

Fibroblast growth factor receptor 2 (FGFR2)

68%

(848/1246)

2

Fibroblast growth factor receptor 3 (FGFR3)

10%

(122/1246)

3

Collagen type II alpha 1 chain (COL2A1)

11%

(140/1246)

4

SED late (SEDL)

8%

(97/1246)

5

Fibrillin

2%

(29/1246)

ML 3

Select Answer to see Preferred Response

PREFERRED RESPONSE 1

(OBQ10.247) A 4-year-old child has flattened facial features, wide set eyes, and the hand deformity pictured in Figure A. Which of the following is the most likely diagnosis? Review Topic

QID: 3346
FIGURES:
1

Apert's syndrome

77%

(2100/2731)

2

Multiple epiphyseal dysplasia

1%

(37/2731)

3

Cleidocranial dysplasia

11%

(300/2731)

4

Noonan syndrome

9%

(234/2731)

5

Achondroplasia

1%

(35/2731)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 1
ARTICLES (4)
Topic COMMENTS (2)
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