Table 3

Clinical phenotypes

Family	Pedigree No	Mutation	Skeletal abnormality	Cardiac abnormality
H8f		I.1		Exon 8	Bilateral hypoplastic thumbs	AV block
				nt1500 C→T	Syndactyly 1/2
		II.2				Right triphalangeal thumb	ASD
						Left absent thumb
						Bilateral radial hypoplasia
H12f		I.1		Exon 8	Bilateral hypoplastic thumbs	AV block
				nt1500 C→T	Syndactyly 1/2
		II.1				Bilateral hypoplastic thumbs	AV block
						Syndactyly 1/2
		II.3				Absent thumbs	VSD
						Bilateral radial hypoplasia
H22s				Exon 8	Bilateral triphalangeal thumbs	ASD
				nt1500 C→T	Bilateral radial hypoplasia
PpHs				Exon 8	Bilateral absent thumbs	AV block
				nt1500 C→T				Left radial aplasia
								Right radial hypoplasia
Ghf				Exon 8	Bilateral absent thumbs	ASD
				nt1500 C→T				Right radial aplasia
								Left radial hypoplasia