Research Article

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

Table 1

Summary of clinical assessment of the four Kallmann syndrome males with cleft lip/palate.

Case no.Age at diagnosis (yr)Clinical diagnosis InheritanceOlfactoryOlfactory bulbs on MRIRenal findings on ultrasoundsOther features

123KSSporadicAnosmiaAbsence (B)NormalCleft lip, gynecomastia
218KSSporadicAnosmiaAbsence (B)NormalCleft lip, dental agenesis
318KSSporadicAnosmiaAbsence (B)NormalCleft lip and palate, dental agenesis, high arched palate
418KSFamilialAnosmiaAbsence (B)NormalCleft lip

B, bilateral; CLP, cleft lip/palate.