Table 1

Phenotypic features of affected subjects

	IV.1	IV.5	V.1	V.3	V.4	V.5
EAC=external auditory canal.
Ptosis	+	+	+	+	+	+
	Bilateral, mild	Bilateral, moderate	Bilateral, mild	Bilateral, severe (surgery)	Bilateral, severe (surgery)	Bilateral, severe (surgery)
Downward slanting palpebral fissures	+	+	+	+	+	+
Malar hypoplasia	+	+	+	+	+	+
Micrognathia	+	+	+	+	+	+
	Severe, required tracheostomy	Mild, no surgery	Mild, no surgery	Moderate, required surgery	Moderate, required surgery	Moderate, required surgery
Malocclusion	+	+	+	+	+	+
Malformation of auricle	+	+	+	+	−	−
	Right rudimentary tag and EAC atresia Left ear small, cupped with EAC stenosis	Right rudimentary tag and EAC atresia Left ear normal with EAC stenosis	Right rudimentary tag and EAC atresia Left ear normal with EAC stenosis	Left rudimentary tag and EAC atresia Right ear normal with EAC stenosis	Both ears unremarkable Bilateral stenosis of EAC	Both ears unremarkable, Bilateral stenosis of EAC
Hearing loss	+	+	+	+	+	+
	Bilateral conductive hearing loss	Left conductive hearing loss	Left ear normal hearing	Right ear conductive hearing loss	Bilateral conductive hearing loss	Bilateral conductive hearing loss