Table 1.
Clinical Summary of 12 Infants with Prader-Willi Syndrome before and during Growth Hormone Therapy
| Genetic Subtype |
Birth Measures |
Average Height (SDS)/ Interval Studied (months) |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject | Sex | Race | PWS | GHR | Pregnancy/Birth | Weight [kg (SDS)] |
Length [cm (SDS)] |
History of G-tube |
Scoliosis (>10°) |
Age GHT Initiated (months) |
Pre-GHT | GHT | Other |
| 1 | F | C | 15q11-q13 type I deletion |
fl/fl | 34 week gestation, C-section, polyhydramnios, pre-eclampsia, dizygotic twin birth |
1.8 kg (−1.3) | 45 cm (−0.7) | Yes | No | 9.6 | −1.9/3.0 | −1.3/2.0 | |
| 2 | F | A/C | 15q11-q13 type II deletion |
fl/fl | 34 week gestation, PROM, emergency C-section |
1.9 kg (−1.3) | 49 cm (0.7) | No | No | 3.6 | −1.3/1.0 | −1/27.0 | |
| 3 | M | C | 15q11-q13 type II deletion |
fl/fl | 38 week gestation, C-section |
2.3 kg (−1.9) | 49 cm (−0.7) | No | No | 20.4 | −0.8/7.0 | 0.9/9.0 | |
| 4 | F | C | 15q11-q14 atypical deletion |
fl/fl | Term | 2.7 kg (−1.6) | 51 cm (0.3) | Yes | No | 6.0 | 0.5/3.5 | 0.4/25 | Coarctation of aorta, PDA, ear tags |
| 5 | F | C | UPD | fl/fl | Term | 2.7 kg (−1.6) | 48 cm (−1.3) | Yes | No | 10.8 | −1.0/5.0 | 0.1/5.0 | Hip subluxation |
| 6 | M | C/AA | UPD | fl/fl | 31 week gestation, maternal hypertension, abnormal placenta, oligohydramnios |
0.9 kg (−1.9) | 35 cm (−1.9) | Yes | No | 6.0 | −6.7/2.5 | −1.6/12.0 | Adrenal insufficiency, pulmonary hypertension, hypospadias, inguinal hernia |
| 7 | M | C | UPD | fl/fl | 38 week gestation | 2.5 kg (−1.3) | 50 cm (0) | No | No | 12.0 | −2.2/8.0 | 0.2/ 81.0 | |
| 8 | M | C | UPD | fl/fl | Term, polyhydramnios, gestational diabetes |
4.2 kg (1.3) | 55 cm (1.9) | Yes | No | 7.2 | 0.7/4.5 | 0.5/22 | NF1 |
| 9 | F | C | 15q11-q13 type I deletion |
fl/d3 | 35 week gestation | 1.9 kg (−1.6) | 46 cm (−0.7) | Yes | No | 6.0 | −3.1/3.0 | −1.0/3.0 | |
| 10 | M | C | 15q11-q13 type II deletion |
fl/d3 | Term | 2.3 kg (−2.3) | 48 cm (−1.3) | Yes | No | 0.6 | NA | −0.8/8.0 | |
| 11 | M | C | UPD | fl/d3 | 37 week gestation | 2.0 kg (−2.3) | 46 cm (−1.3) | No | No | 7.2 | −3.6/2.5 | −0.2/62.0 | Multiple bone fractures |
| 12 | F | C | 15q11-q13 type II deletion |
d3/d3 | 38 week gestation, C-section |
2.4 kg (−1.6) | 48 cm (−0.7) | Yes | No | 9.6 | −0.9/5.0 | 0.1/11.0 | Horseshoe kidney, hip dysplasia |
M= Male; F= Female; AA= African-American; A= Asian; C= Caucasian; PWS= Prader-Willi syndrome; GHR= Growth hormone receptor gene; UPD= Uniparental maternal disomy 15; PROM= Premature rupture of membranes; SDS= Standard deviational score; GHT= Growth hormone therapy; NF1= Neurofibromatosis 1; PDA= Patent ductus arteriosus; NA= Not applicable