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Table 1 Clinical features of Cornelia de Lange syndrome and our case based on First International Consensus Statement, 2018 [5]

From: Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

  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