Table 2.

Select Features of Shprintzen-Goldberg Syndrome

Feature# of Persons w/Feature /
# Evaluated for Feature
Developmental delay / intellectual disability41/44
Craniosynostosis 131/41
Downslanting palpebral fissures38/41
Ocular proptosis34/42
Malar flattening24/24
High narrow palate23/23
Low-set, posteriorly rotated ears23/24
Pectus deformity32/40
Joint hypermobility18/22
Joint contractures32/36
Foot malposition / talipes equinovarus / club foot / pes cavus23/31
C1-C2 spine malformation7/10
Aortic root dilatation14/41
Mitral valve prolapse / valvular anomalies12/38
Abdominal hernias14/23
Minimal subcutaneous fat / marfanoid habitus9/20

Typically coronal, sagittal, or lambdoid sutures

From: Shprintzen-Goldberg Syndrome

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