Fig. 1
Pedigrees and representative images for Families 1, 2, and 3. a Pedigree for Family 1 highlighting that the proband (III.2) and his sister (III.1) are similarly affected (filled squares/circles). For all pedigrees, ages are in years (y), months (mo), and embryonic weeks (E; wks) and listed when available. The DNA variants identified in C2CD3 are shown in tested individuals to show segregation and inheritance. b-g Representative images of the proband in Family 1 at 6 months of age highlighting microcephaly and facial dysmorphisms (b, c), molar tooth sign (d), polydactyly (e, f), and tongue hamartoma and incomplete cleft lip (g). h Affected siblings together at 15 months (proband) and 4 years of age (sister). i–l Representative images of the proband’s sister at 4 years of age highlighting facial dysmorphisms and disproportionately large ears (i), incomplete cleft lip (j), and surgically corrected polydactyly of feet and hands (k, l). (m) Pedigree for Family 2 highlighting the proband (II.4) and sister (II.3) are affected. (n) Pedigree for Family 3 highlighting the proband (II.1) is affected. o–r Representative images of the proband, Family 3, highlighting anomalies of the face, ears (o, p), and tongue (q, r)
