PMC6277459_01
Phenotype and molecular findings of five CdLS patients with the NIPBL intronic variant c.5329-15A>G. (A) Pedigrees of family 1 (F1) with three ascertained affected individuals (II-3, III-1, III-2) and one inferred patient and of family 2 (F2) and 3 (F3) sporadic cases. Black symbols are for the CdLS patients, gray symbol for individual with inferred phenotype; black symbol in square brackets indicates an adopted child. (B) Facial appearance of F1 sibs and mother and of F2 proband. (C) DNA pathogenic variant (cDNA nomenclature). Below each family member the normal ("+") or variant allele (c.5329-15A>G) is indicated.
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F1
All subjects displayed mild, but typical signs of CdLS facial gestalt as synophrys, long filtrum, and anterved nostrils (Figures 1A,B). Proband II-1 is a male child, born to healthy parents (Figure 1A) referred at the age of 5 years because of facial gestalt typical of CdLS (Figure 1B) and mild psychomotor delay. The proband II-1 is an adopted girl (Figure 1A) referred at age of 10 years for scholar problems and suggestive facial dysmorphisms. As shown in Figure 1A, CdLS facial gestalt was characterized by synophrys, highly arched eyebrows, short nose with anteverted nares, long philtrum, thin vermilion of the upper lip, high, and arched palate.