Table 1

Clinical characteristics of the VWS patients in the study

Family NoSubject No(ID)GenotypedSexVWS phenotype1-150
CL/PCPLip pits
57II.1(6387)YesM+
II.2(6388)YesF+
II.3(6389)YesM+
II.5(6381)YesM+
III.3(6397)YesFsm
III.5(6396)YesM+
III.7(6383)YesM+
III.9(6385)YesF+
III.10(6386)YesMsmwl
IV.2(6394)YesF+
IV.4(6399)YesF+wl
59II.5(5)M+
III.1(16)M+
III.3(6405)YesF++
IV.1(6402)YesM+
IV.5(6410)YesM++
60IV.2(6414)YesF+
IV.6(6428)YesF+
IV.7(6426)YesMsm+
IV.10(34)M+
V.1(6411)YesMsm
V.2(6412)YesF+
61II.1(5)M+
III.2(6379)YesF+
III.3(7)M+
IV.1(6376)YesM+
IV.2(6377)YesF++
62II.1(6432)YesM++
III.1(6435)YesF+
III.2(6433)YesMsm+
  • 1-150 + = present; blank = not observed; CL/P = cleft lip with and without cleft palate; CP = cleft palate; sm = submucous cleft palate; wl = “wave-like” lower lip.