Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Table 1

Phenotypic features of the affected family members.

Affected members	II.2	III.3	IV.2	IV.1
Sex/age	F/55	F/30	F/4	M/3
Downward slanting palpebral fissures	+	+	+	+
Lower lid coloboma	−	−	−	−
Hypoplasia of zygomatic complex	+	+	+	+
Microtia	+	−	+	+
Atresia of external ear canal	−	−	+	+
Cleft palate	−	−	+	+
Conductive deafness	+	−	+	+
Choanal atrasia	−	−	−	−
Pre-auricular tags	−	−	+	+
Delayed speech development	+	+	+	+
Antimongoloid stout	+	−	+	+
Ear pinna deformed	−	−	+	+
Micrognathia	+	+	+	−
Partial absence of lower eyelash	−	+	+	+
Facial phenotype	Mild	Mild	Severe	Severe