Table 1

Clinical features and P63 mutation screening of patients with EEC syndrome

		Limbs†
Patient	Ectodermal features*	Hands	Feet	Clefting‡	Other features	Nucleotide changes	Amino acid changes
*H=sparse hair, La=lacrimal duct stenosis/atresia, N=nail hypoplasia, T=anodontia or hypodontia, Ni=hypoplastic/inverted nipples. †C=cleft, S=syndactyly, O=oligodactyly, M=monodactyly, T=toe hypoplasia. ‡L=lip, P=palate. §These features are probably attributable to an episode of meningitis that she experienced at the age of 10 months.
RG	H, La, Ni	C, S, O	T	–	Anterior hair whorl	G728T	R204L
ALT	H, T	C, S, O	C	–		G728A	R204Q
RB	H, Ni	C, S	–	L and P	Hearing loss	G953A	R279H
SH	H, T	C, O	C, S, O	L	Blindness, seizures, MR§	G1028C	R304P
ED	H, T, N, La	C	T, S	L and P		G1028A	R304Q
BH	H, La, N, T	C	C	L and P		G1028A	R304Q
JR	H, N	C, S	C, S	L and P		C1027T	R304W
SN	H, Ni	O, S	C, O	–	Anterior hair whorl, hydrocephalus	None	–
LA	H, La, T	O, M	O, M	L and P	Microcephaly, microphthalmia coloboma	None	–
WJ	H, Ni	C, O	C, O	L	Microcephaly, microphthalmia	None	–