Table 1 Clinical features of Cornelia de Lange syndrome and our case based on First International Consensus Statement, 2018 [5]
Our case | |
|---|---|
Cardinal features (2 points each if present) | |
• Synophrys and/or thick eyebrows | + |
• Short nose, concave nasal ridge, and/or upturned nasal tip | + |
• Long and/or smooth philtrum | + |
• Thin upper lip vermilion and/or downturned corners of mouth | + |
• Hand oligodactyly and/or adactyly | − |
• Congenital diaphragmatic hernia | − |
Suggestive features (1 point each if present) | |
• Global developmental delay and/or intellectual disability | + |
• Prenatal growth retardation (< 2 SD) | + |
• Postnatal growth retardation (< 2 SD) | + |
• Microcephaly (prenatally and/or postnatally) | + |
• Small hands and/or feet | + |
• Short fifth finger | + |
• Hirsutism | + |
Clinical score | |
• ≥ 11 points, of which at least 3 are cardinal: classic CdLs | 15 |
• 9 or 10 points, of which at least 2 are cardinal: non- classic CdLs | |
• 4–8 points, of which at least 1 is cardinal: molecular testing for CdLs indicated | |
• < 4 points: insufficient to indicate molecular testing for CdLs | |