Percentage of typical SRS features observed in our matUPD(7) patients and non-matUPD(7) SRS cases, previously reported matUPD(7) cases,16-24 and generally in SRS (three reports). Only findings that were clearly mentioned in each report have been included in these figures. Features not clearly mentioned in patient records or in reports of SRS patients were regarded as not present. However, it is uncertain whether these characteristics were truly missing or if they had not been evaluated. For one SRS patient with matUPD(7) no clinical findings were reported,17 so the numbers of previously reported matUPD(7) patients in this table is 20
| Characteristic | Present study | Previously reported matUPD(7) cases | General SRS reports | ||||
|---|---|---|---|---|---|---|---|
| matUPD(7) cases | Non-matUPD(7) cases | Price et al6(n=50) | Wollman et al5(n=143) | Escobar et al3 (n=90) | |||
| Speech delay/difficulties | 100% (4/4) | 21% (6/28) | 10% (2/20) | 20% | |||
| Excessive sweating | 100% (4/4) | 36% (10/28) | 10% (2/20) | ||||
| Feeding difficulties | 100% (4/4) | 36% (10/28) | 20% (4/20) | 56% | |||
| Low set ears/ear anomalies | 100% (4/4) | 71% (20/28) | 5% (1/20) | 53% | 20% | ||
| Asymmetry/disproportion of limbs | 100% (4/4) | 75% (21/28) | 25% (5/20) | 34% | 51% | 74% | |
| Craniofacial disproportion | 100% (4/4) | 86% (24/28) | |||||
| Relative macrocephaly | 100% (4/4) | 89% (25/28) | 65% (13/20) | 64% | |||
| Frontal bossing | 100% (4/4) | 89% (25/28) | 30% (6/20) | 65% | |||
| Intrauterine growth retaradation | 100% (4/4) | 100% (28/28) | 50% (10/20) | 58% | |||
| Small for gestational age | 100% (4/4) | 100% (28/28) | 85% (17/20) | 94% | |||
| Growth retardation >−2.5 SD | 100% (4/4) | 100% (28/28) | 100% (20/20) | 99% | 100% | ||
| Short arms | 75% (3/4) | 21% (6/28) | 22% | ||||
| Hemihypertrophy | 75% (3/4) | 54% (15/28) | |||||
| Delayed bone age | 75% (3/4) | 61% (17/28) | 15% (3/20) | 51% | |||
| Neuropsychological delay | 50% (2/4) | 11% (3/28) | 5% (1/20) | 38% | 37%2-150 | 18% | |
| Short neck | 50% (2/4) | 14% (4/28) | |||||
| Motor developmental delay | 50% (2/4) | 29% (8/28) | 15% (3/20) | 37%2-150 | |||
| Cryptorchidism | 50% (1/2) | 67% (10/15) | 32% | 32%2-150 | |||
| Brachydactyly V | 50% (2/4) | 71% (20/28) | 20% (4/20) | 48% | 80%2-151 | ||
| Clinodactyly of V digits | 50% (2/4) | 82% (23/28) | 35% (7/20) | 56% | 68% | 80%2-151 | |
| Sacral abnormalities | 25% (1/4) | 7% (2/28) | |||||
| Vertebral abnormalities | 25% (1/4) | 7% (2/28) | |||||
| Muscular hypoplasia | 25% (1/4) | 54% (15/28) | 10% (2/20) | 45% | |||
| Triangular face | 0% (0/4) | 96% (27/28) | 35% (7/20) | 79% | 83% | ||
| Micrognathia | 0% (0/4) | 86% (24/28) | 33% | ||||
| Irregular/crowded teeth | 0% (0/4) | 64% (18/28) | 5% (1/20) | 28% | 1.3% | ||
| Downturned mouth | 0% (0/4) | 61% (17/28) | 46% | 74% | |||
| Syndactyly of toes II/III | 0% (0/4) | 36% (10/28) | 19% | 19% | |||
| Cleft/high arched palate | 0% (0/4) | 32% (9/28) | 5% (1/20) | 2% | 16% | ||
| Scoliosis | 0% (0/4) | 32% (9/28) | 17% | ||||
| High pitched voice | 0% (0/4) | 25% (7/28) | 5% (1/20) | 22% | |||
| Hypospadias | 0% (0/2) | 13% (2/15) | 4% | 32%2-150 | |||
| Early puberty | 0% (0/1) | 7% (2/2) | 8% | ||||
| Hip/elbow dislocations | 0% (0/4) | 7% (2/28) | 1.3% | ||||
| Congenital ptosis | 0% (0/4) | 7% (2/28) | |||||
| Simian crease | 0% (0/4) | 7% (2/28) | 25% | ||||
| Café au lait spots | 0% (0/4) | 4% (1/28) | 5% (1/20) | 4% | 19% | 28% | |
| Blue sclerae | 0% (0/4) | 4% (1/28) | 5% (1/20) | ||||
| Pes cavus | 0% (0/4) | 4% (1/28) | 7% | ||||
| Hepatomegaly | 0% (0/4) | 4% (1/28) | |||||
| Delayed closure of anterior fontanelle | 0% (0/0) | 0% (0/27) | 18% | ||||
| Metacarpal pseudoepiphysis | 0% (0/4) | 0% (0/27) | 1.3% | ||||
| Maternal age at birth (average) | 41 (n=4) | 29 (n=28) | 32 (n=16) | 28 | |||
| Paternal age at birth (average) | 44 (n=4) | 31 (n=23) | 31 (n=13) | 31 | |||
| Maternal height (average) | +0.1 SD (n=4) | −0.6 SD (n=25) | −0.4 SDS | ||||
| Paternal height (average) | 0.0 SD (n=4) | 0.0 SD (n=22) | −0.3 SDS | ||||