Table 1:
Phenotypic Characteristics According to Molecular Class for All Participants with Prader-Willi Syndrome with or without Growth Hormone Treatment
| Deletion | UPD | p-value | |||
|---|---|---|---|---|---|
| VARIABLES | N=217 (M=99,F=118) |
Mean (SD) or % frequency | N=127 (M=53,F=74) |
Mean (SD) or % frequency | |
| GROWTH PARAMETERS: | |||||
| Height percentile for age and gender | 160/217 | 42 (34) | 109/127 | 45 (35) | 0.510 |
| Weight percentile for age and gender | 207/217 | 75 (31) | 123/127 | 62 (35) | 0.002 |
| Head circumference (HC) percentile for age and gender | 192/217 | 51 (34) | 115/127 | 61 (31) | 0.009 |
| BMI percentile for age and gender | 209/217 | 86 (36) | 116/127 | 84 (38) | 0.137 |
| HEAD: | |||||
| Microcephaly HC (<3rd percentile) | 25/192 | 13% | 3 | 2% | 0.056 |
| Prominent occiput | 38 | 18% | 26 | 20% | 0.452 |
| Flat occiput | 59 | 27% | 18 | 14% | 0.005 |
| Round face | 74 | 34% | 34 | 27% | 0.157 |
| Bitemporal narrowing | 150 | 69% | 82 | 64% | 0.233 |
| Craniosynostosis | 2 | 0.9% | 1 | 0.8% | 0.550 |
| HAIR: | |||||
| Low anterior hair line | 56 | 26% | 19 | 15% | 0.04 |
| Fair colored for family members | 87 | 40% | 19 | 15% | <0.001 |
| Hypopigmented | 86 | 40% | 19 | 15% | <0.001 |
| EYES: | |||||
| Esotropia | 81 | 37% | 49 | 39% | 0.529 |
| Exotropia | 7 | 3% | 10 | 8% | 0.091 |
| Strabismus | 84 | 39% | 67 | 53% | 0.03 |
| Upslanting palpebral fissures | 57 | 26% | 23 | 18% | 0.156 |
| Downslanting palpebral fissures | 13 | 6% | 17 | 13% | 0.015 |
| Almond-shaped | 147 | 68% | 73 | 58% | 0.045 |
| Inter-canthal distance percentile for age and gender | 71 | 58 (33) | 49 | 61 (32) | 0.582 |
| Inter-pupillary distance percentile for age and gender | 70 | 65 (35) | 47 | 67 (35) | 0.685 |
| Outer-canthal distance percentile for age and gender | 71 | 50 (39) | 49 | 48 (41) | 0.749 |
| NOSE: | |||||
| Narrow | 36 | 17% | 18 | 14% | 0.638 |
| MOUTH: | |||||
| Philtrum flat | 50 | 23% | 31 | 24% | 0.957 |
| Upper lip downturned | 49 | 23% | 35 | 28% | 0.400 |
| Abnormal dentition | 91 | 42% | 31 | 25% | 0.009 |
| Dental caries | 41 | 19% | 20 | 16% | 0.045 |
| Dental grinding | 87 | 40% | 45 | 36% | 0.196 |
| EARS: | |||||
| Posterior angulated | 13 | 6% | 17 | 14% | 0.019 |
| Ear length percentile for age and gender | 71 | 44 (30) | 47 | 53 (29) | 0.075 |
| CHEST: | |||||
| Pectus excavatum | 32 | 15% | 24 | 19% | 0.314 |
| Pectus carinatum | 6 | 3% | 5 | 4% | 0.551 |
| ABDOMEN: | |||||
| Abdominal striae | 83 | 38% | 32 | 25% | 0.024 |
| Abdominal pale striae | 62 | 29% | 21 | 17% | 0.045 |
| EXTREMITIES: | |||||
| Hand length percentile for age and gender | 190 | 38 (31) | 114 | 36 (33) | 0.773 |
| Foot length percentile for age and gender | 185 | 24 (25) | 106 | 23 (26) | 0.841 |
| Shorter fifth finger | 86 | 40% | 35 | 28% | 0.024 |
| Nail abnormalities | 56 | 26% | 16 | 13% | 0.050 |
| Large thighs | 112 | 52% | 50 | 39% | 0.025 |
| SPINE: | |||||
| Scoliosis | 96 | 44% | 50 | 39% | 0.050 |
| GENITALIA: | |||||
| Bilateral cryptorchidism | 74/99 | 75% | 28/53 | 53% | 0.263 |
| Micropenis(<5th percentile) | 26/99 | 26% | 14/53 | 26% | 0.173 |
| Scrotum rugation poor | 32/99 | 32% | 18/53 | 34% | 0.920 |
| Scrotum hypoplastic | 46/99 | 46% | 25/53 | 47% | 0.570 |
| Labia minora hypoplastic | 53/118 | 45% | 37/74 | 50% | 0.526 |
| Clitoris hypoplastic | 48/118 | 41% | 27/74 | 36% | 0.531 |
| SKIN: | |||||
| Face skin picking | 14 | 6.5% | 6 | 4.7% | 0.010 |
Eleven participants with imprinting defects were not included in the analysis
F= Female, M= Male