Table 1.

Clinical Features of Individuals Studied in This Report

	Individual 1	Individual 2	Individual 3	Individual 4
Previous publication	not previously reported	Zechi-Ceide et al.19	not previously reported	Cushman et al.18
Diagnosis	MFDA	MFDA	MFDA	MFDA/JMS
Gender	M	M	M	F
MFD	+	+	+	NA
Zygomatic arch (by CT scan)	dysplastic	dysplastic	dysplastic	NA
Mandible (by CT scan)	dysplastic	dysplastic	dysplastic	NA
Cleft palate	+	+	+	−
Alopecia	+	+	+	+
Eyelid anomalies	+	+	+	+
Auricular dysmorphism	+	+	+	+
Hearing loss	+	+	+	+
Dental anomalies	+	+	−	−
Other phenotypes	megaureter	white hairs	bicuspid aortic valve	−
EDNRA mutationa	c.386A>T	c.386A>T	c.386A>T	c.907G>A
Protein change	p.Tyr129Phe	p.Tyr129Phe	p.Tyr129Phe	p.Glu303Lys
Inheritance	de novo (somatic mosaic)	de novo	de novo	de novo (somatic mosaic)

Abbreviations are as follows: MFDA, mandibulofacial dysostosis with alopecia; JMS, Johnson-McMillin syndrome; F, female; M, male; +, finding present; −, finding not present; NA, information not available.

^aCo-ordinates refer to RefSeq transcript NM_001957.3.