Clinical findings | Case 1 | Case 2 | D’Angelo et al., 2006 [[11]] | D’Angelo et al., 2010 [[23]] | Eugster et al., 1997 [[21]] | Tsuyusaki et al., 2010 [[24]] | Tsuyusaki et al., 2010 [[24]] |
---|---|---|---|---|---|---|---|
Microcephaly | + | + | - | - | - | - | - |
Brachycephaly | + | + | - | - | + | - | - |
Straight eyebrows | + | + | + | + | + | + | |
Deep-set eyes | + | + | +/- | +/- | + | + | + |
Epicanthal folds | + | + | - | - | - | - | - |
Broad nasal root/bridge | + | + | - | - | + | + | - |
Posteriorly rotated/low-set/abnormal ears | + | + | - | - | - | + | - |
Pointed chin | + | + | - | - | + | + | - |
Midface hypoplasia | + | + | - | - | + | + | + |
Short feet | + | + | + | + | + | + | + |
Developmental delay | + | + | + | + | + | + | + |
Mental retardation | + | + | + | + | + | + | + |
Hypotonia | + | + | + | + | + | + | + |
Seizures | + | + | - | - | + | + | + |
Brain abnormalities | - | - | - | + | + | ||
Sensorineural deafness | +/- | +/- | - | - | + | +/- | - |
Strabismus | + | + | - | - | + | - | - |
Expressive language (poor/absent) | + | + | + | + | + | + | + |
Behavioural disorders | + | + | + | + | + | + | + |
Heart abnormalities | - | - | - | - | ND | + | - |
Renal abnormalities | - | - | - | - | ND | - | - |
External genitalia abnormalities | - | - | - | - | ND | - | - |
Poor neonatal weight | + | + | + | + | +/- | + | - |
Poor neonatal length | + | + | + | + | ND | - | + |
Hyperphagia | + | + | + | + | + | + | + |
Obesity | + | + | + | + | + | + | + |
Hyperinsulinism | + | + | ND | ND | ND | ND | ND |
Thyroid disorders | - | - | + (thyroid nodules) | + | ND | ND | ND |