Table 1
Pooled clinical data sorted by mutation for 13 literature cases and 19 LS from this study
| Mutation | Y279C | T468M | Fisher exact test(two tailed)* | Q510P | Y279S | No mutation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Liter-ature (n = 6) | This series(n = 6) | Com-bined | Liter-ature(n = 7) | This seriesn = 8) | Com-bined | Pt 1(mother) | Pt 2(prob-and) | Pt 3 | Pt 4 | Pt 5(prob-and) | Pt 6(father) | ||
| *Comparison of Y279C with T468M; †original LEOPARD acronymic keywords. | |||||||||||||
| BL, birth length; BW, birth weight; M, male; N, no; OFC, occipitofrontal circumference; Y, yes. | |||||||||||||
| Mean age at report | 12 years 3 months | 13 years | 11 years 11 months | 19 years | ? | 12 years | 25 years | 6 years | 14 years | 41 years | |||
| Mean BW (g) | ? | 3530 | ? | 4042 | ? | 3740 | 4700 | 3570 | 4220 | 3160 | |||
| Mean BL (cm) | ? | 50.6 | ? | 50.4 | ? | 51 | 53 | 51 | 49.5 | ? | |||
| Mean birth OFC (cm) | ? | 35.1 | ? | 35.75 | ? | 37 | 36 | 34.5 | 36 | ? | |||
| Lentigines† | 6/6 | 6/6 | 12/12 | 5/7 | 7/7 | 12/14 | 1 | Y | Y | Y | Y | Y | Y |
| Café au lait spots | 2/4 | 3/6 | 5/10 | 7/7 | 3/7 | 10/14 | 0.4 | N | Y | Y | N | N | N |
| Pulmonary stenosis† | 1/6 | 1/6 | 2/12 | 1/7 | 2/7 | 3/14 | 0.66 | N | Y | N | N | N | |
| Heart defect (not PS) | 1/5 | 2/6 | 3/11 | 4/7 | 4/7 | 8/14 | 0.22 | N | Y | Y | N | N | Y |
| Cardiomyopathy | 3/6 | 3/6 | 6/12 | 2/7 | 4/7 | 6/14 | 1 | N | N | N | Y | N | N |
| EKG conduction anomalies† | 2/2 | 3/5 | 5/7 | 1/7 | 1/6 | 2/13 | 0.02* | ? | Y | N | ? | N | Y |
| Retardation of growth† | 2/6 | 2/5 | 4/11 | 1/7 | 0/6 | 1/13 | 0.13 | N | N | N | N | N | N |
| Deafness† | 0/3 | 2/6 | 2/9 | 0/7 | 0/7 | 0/14 | 0.14 | N | Y | Y | Y | N | N |
| Abnormal genitalia† | 1/1 | 0/6 | 1/7 | ? | 1/7 | 1/7 | 1 | N | N | N | N | N | N |
| Cryptorchidism | 1/2M | 1/3M | 2/5M | 0/2M | 1/5M | 1/7M | Y | N | N | ||||
| Mental retardation | 1/6 | 2/6 | 3/12 | 2/7 | 1/7 | 3/14 | 1 | N | N | N | N | N | N |
| OFC→p75 | 3/6 | 0/3 | 3/9 | 4/7 | 1/5 | 5/12 | 1 | N | N | ||||
| Triangular face | 1/2 | 3/6 | 4/8 | – | 4/7 | 4/7 | 1 | N | Y | Y | N | N | N |
| Ocular hypertelorism† | 5/6 | 3/6 | 8/12 | 7/7 | 3/7 | 10/14 | 1 | N | N | N | Y | N | Y |
| Ptosis | 6/6 | 3/6 | 9/12 | 5/7 | 3/7 | 8/14 | 0.43 | N | N | N | N | N | N |
| Prognathism | ? | 2/6 | 2/6 | – | 2/7 | 2/7 | 1 | N | N | Y | N | N | N |
| Pterygium colli | 0/2 | 1/6 | 1/8 | – | 2/7 | 2/7 | 0.57 | N | N | N | Y | N | N |
| Pectus excavatum/carinatum | 2/5 | 6/7 | 8/12 | 5/7 | 5/7 | 10/14 | 1 | N | N | N | N | Y | N |
| Scoliosis | 1/2 | 2/7 | 3/9 | – | 1/7 | 1/7 | 0.58 | N | N | N | N | Y | N |
| Coagulation abnormalities | 1/1 | 1/4 | 2/5 | – | 2/3 | 2/3 | N | Y | Y | N | N | N | |
