Table 1: Comparison of phenotypic characteristics of case in presentation with recently described cases of LEOPARD syndrome

Clinical features Present case Digilio et al. (2002)
No. of case 1 		Digilio et al. (2002)
No. of case 2 		Takahashi et al. (2005)
No. of case 1
Sex Male Female Male Male
Age at presentation 36 yrs 24 months 27 months 14 months
Facial anomalies + + + +
Hypertelorism + + - +
Palpebral ptosis - + + -
Dysmorphic ears - + + +
Hypertrophic cardiomyopathy + + + +
Mitral valve anomaly - + - +
Pulmonary stenosis - - + -
Thorax anomalies + + - -
Deafness - - - +
Skin anomalies + + + -
Café-au-lait spots + + + -
Lentigines + + - -
Delayed milestones - + + +
Hypotonia - + + +
Cryptorchidism +