PMC9726764_01
Clinical features of the patient and Sanger sequencing results of her family members. (A) Pedigree of the family. The arrow indicates the patient. (B) The patient presented with typical facial features of Cornelia de Lange syndrome (CdLS). (C) The results of Sanger sequencing for the patient and her parents. A heterozygous synonymous variant of NIPBL (NM_133433.4): c.6819G>T (p.Gly2273 = ) was detected in the patient while her parents showed the wild-type variant.
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F1
The patient's parents were healthy and nonconsanguineous (Figure 1A). Other clinical symptoms included microcephaly (head circumference: 43 cm), language and intelligence retardation, short fifth finger, and dysmorphic facial features (inverted triangular face, long black eyelashes, synophrys, low nose bridge, wide eye distance, micrognathia, and long philtrum) (Figure 1B; Table 1).