Table 1

Clinical features of affected subjects in the pedigree

	Patient 1 (54 y)	Patient 2 (29 y)	Patient 3 (12 y)
Bilateral sensorineural hearing loss	+	+	+
Microcephaly	+	+	−
Telecanthus	+	+	+
Epicanthic folds	−	+	+
Narrow palpebral fissures	+	+	−
Broad nasal root	+	+	+
Malar hypoplasia	+	+	+
Dental malocclusion	+	+	+
Abnormal teeth	+	+	+
Full lower lip	−	+	+
Micrognathia	−	+	+
Low set ears	+	+	+
Myopia	+	+	−
Short stature	+	+	−
Umbilical hernia	+	+	+
Widely spaced, hypoplastic nipples	+	+	+
Dermatoglyphics, >5 low arches	+	+	+
Abnormal distal interphalangeal creases	+	+	+
Telangiectasias	+	+	−
Decreased cognitive functioning	+	+	+
Pancytopenia	Severe	Mild	−
Karyotype	46,XY	46,XY	46,XY