Table 1

The phenotypes of the individual family members

Family number111112223444
Subject numberII.1II.3III.1III.2III.4II.2III.1III.2II.3I.1II.1II.2
SexMMFFFMMMFMMF
Orofacial
Cleft lip++++++++++++++
Cleft palate+++++++++++++++++++
Lower lip pits++++++++++++++
Oral synechiae+++++++++++++++++
Thin upper lip++++++++++++
Ankyloblepharon+++++
Cutaneous/musculoskeletal
Hand syndactyly+++
Toe syndactyly+++++++++++++++++++++
Popliteal web+++++++++++++++++++
Triangular overgrowth over big toe?+++++++
Bifid toenail+
Genitalia
Hypoplastic labia majora/scrotum?++++++++++++++++
Abnormal pubic hair?+++++++++++++