Table 3. Features that assist in distinguishing Malan syndrome patients from those with Sotos syndrome.12, 13.
Malan syndrome | Sotos syndrome | |
---|---|---|
Median height (SD) | +2.0 | >+2.5 |
Median head circumference (SD) | +2.3 | >+2.5 |
Pectus excavatum | 40% | <15% |
Strabismus | 65% | <15% |
Ocular nerve hypoplasia/pallor | 25% | <15% |
Cerebellar ataxia, hemiplegic migraine | At risk if CACNA1A deleted | − |
Abbreviation: SD, standard deviations above the mean.