PMC4793797_01
Illustrations showing the phenotypic appearance of the proband: (a) bilateral cleft lip and lower lip pits (arrows); (b, c) popliteal pterygium; (d) right foot complete cutaneous syndactyly between the second and third toes and the fourth and fifth toes and partial cutaneous syndactyly between the third and fourth toes; (e) left foot partial cutaneous syndactyly between the second and third toes; (f) hand cutaneous partial syndactyly; and (g) hypoplastic labia major.
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F1
The proband, a 3-year-old girl, had bilateral cleft lip and palate (CLP), lower lip pits, right hand partial cutaneous syndactyly between the middle and ring fingers, right foot complete cutaneous syndactyly between the second and third toes and between the fourth and fifth toes and partial cutaneous syndactyly between the third and fourth toes, left foot partial cutaneous syndactyly between the second and third toes, bilateral equinovarus, bilateral popliteal pterygium, and hypoplastic labia major (Figure 1).
Pedigree of the family is shown. Filled symbols represent affected individuals.
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F2
Other members of the family were phenotypically normal (Figure 2).
Sequence tracks from each individual are shown with an arrow pointing to the mutation. Left: control; center: daughter; and right: mother.
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F3
Applied Biosystems, USA). A missense mutation, c.250C>A, in IRF6 exon 4 was found in both of them (Figure 3).