Table 1.
Clinical diagnostic criteria for SRS and BWS are given based on published diagnostic scoring systems
| Scoring system | |
|---|---|
| SRS | |
| Birth weight and/or length ≤–2 SDa | 1–6 |
| Height ≤−2 SD at or after 2 years of agea | 1–6 |
| Relative macrocephaly at birtha | 2–6 |
| Body, face, and/or limb asymmetrya | 1–6 |
| Classic facial phenotype | |
| prominent forehead, triangular face, downturned corners of the mouth and micrognathia, or protruding forehead onlya | 1–4, 6 |
| Feeding difficultiesa | 4, 6 |
| Normal cognitive development | 3 |
| Clinodactyly | 1, 3 |
| Genital anomalies (e.g., cryptorchidism, hypospadias) | 3 |
| Other (e.g., brachymesophalangy, syndactylous toes, inguinal hernia, pigmentary changes) | 3 |
| BWS | |
| Major criteriab | |
| Abdominal wall defect, exomphalosc (1.5 points), and/or diastasis recti | 7–10 |
| Macroglossiac (2.5 points) | 7–10 |
| Macrosomia (pre- and postnatal height >97th percentile) | 7–10 |
| Visceromegaly of intra-abdominal organ(s): for example, liver, kidney, spleen, pancreas, and adrenal glands | 7, 9, 10 |
| Minor criteria | |
| Neonatal hypoglycemiac (0.5 points) | 7–10 |
| Anterior ear lobe creases and/or posterior helical pits (bilateral or unilateral)d | 7–9 |
| Facial nevus flammeus | 7, 9, 10 |
| Hemihyperplasiaccd (0.5 points) | 7, 9, 10 |
| Other: pregnancy-related findings (polyhydramnios, enlarged placenta and/or thickened umbilical cord, premature onset of labor and delivery), renal abnormalities, embryonal tumor of childhood, cardiomegaly, characteristic facies, advanced bone age | 9 |
There are 6 scoring systems for SRS: 1 = Lai et al., 1994; 2 = Price et al., 1999; 3 = Bartholdi et al., 2009; 4 = Netchine et al., 2007; 5 = Dias et al., 2013, and 6 = Azzi et al., 2015, and 4 for BWS: 7 = Elliott and Maher, 1994; 8 = DeBaun et al., 1998; 9 = Weksberg et al., 2010, and 10 = Ibrahim et al., 2014. Numbers signify the scoring systems which highlighted this feature.
Most sensitive scoring system for SRS – the so-called Netchine-Harbin-son clinical scoring system [Azzi et al., 2015].
[Weksberg et al. 2010] gave more major findings: embryonal tumor of childhood, cytomegaly of adrenal cortex, renal abnormalities, positive family history of BWS, and cleft palate.
[Ibrahim et al. 2014] used logistic regression and identified clinical features of BWS with the best predictive value and scored some features differently. Exact scores (points) are given in parentheses.
[Weksberg et al. 2010] classified this feature under major criteria.