DDx
Diagnostic Considerations
These include the following:
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Dup(3q) syndrome
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Coffin-Siris syndrome
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Fryns syndrome
Differential Diagnoses
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Dup(3q) syndrome
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Fryns syndrome
Media Gallery
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Facial appearance of a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
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Facial profile of a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
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Severe upper-extremity malformations in a patient with Cornelia de Lange syndrome. Courtesy of Ian Krantz, MD, Children's Hospital of Philadelphia.
of
3
Tables
Table. Scoring System for Severity of Cornelia de Lange Syndrome
[24]
Parameter |
1 point |
2 point |
3 point |
Birth weight |
Above 2,500 g |
2,000–2,500 g |
Below 2,000 g |
Sitting alone |
< 9 mo |
9–20 mo |
>20 mo |
Walking alone |
< 18 mo |
18–42 months |
>42 mo |
Saying first word |
< 24 mo |
24–48 mo |
>48 mo |
Upper limb malformation |
No defect |
Partial defect (>2 digits) |
Severe defect (< 2 digits) |
Number of other major malformations |
0-1 |
2-3 |
>3 |
Hearing loss |
Absent |
... |
... |
A score of less than 15 points indicates mild involvement, a score of 15-22 points indicates moderate involvement, and a score of more than 22 points indicates severe involvement. |
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