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 | Inheritance | Olfactory | Olfactory bulbs on MRI | Renal findings on ultrasounds | Other features |
| 1 | 23 | KS | Sporadic | Anosmia | Absence (B) | Normal | Cleft lip, gynecomastia | 2 | 18 | KS | Sporadic | Anosmia | Absence (B) | Normal | Cleft lip, dental agenesis | 3 | 18 | KS | Sporadic | Anosmia | Absence (B) | Normal | Cleft lip and palate, dental agenesis, high arched palate | 4 | 18 | KS | Familial | Anosmia | Absence (B) | Normal | Cleft lip |
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B, bilateral; CLP, cleft lip/palate.
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