From: 11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?
Patient | SRS key features* | Palumbo et al. [1] | Present case |
---|---|---|---|
Size | 4.3 Mb | 2.76 Mb | |
Growth | SGA* | Yes | Yes |
Postnatal growth failure* | Yes | Yes | |
Feeding difficulties and/or lower BMI* | No | No | |
Facial gestalt | Relative macrocephaly* | Yes | No |
Protruding forehead* | No | Yes | |
Triangular face | Yes | Yes | |
Retrognathia | Yes | No | |
Downturned corners of the mouth | Yes | No | |
Body/limbs | Body asymmetry* | Yes | Slight |
Muscular hypotonia | Yes | No | |
Clinodactyly V | Yes | Yes | |
Scapular winging | Yes | Yes | |
Development | Psychomotoric delay | Yes | Yes |
Speech delay | Yes | Yes | |
NHS score | 4 | 3 (4) |