From: Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome
Individual; sex | IV,1; m | IV,2; f | III,2; f | III,3; m | II,2; f | II,3; f | I,1; m |
---|---|---|---|---|---|---|---|
Diagnosis of SRS | Y | N | Y | N | N | N | N |
NHCSS score | 5/6 | 0/6 | 5/6 | 0/6 | 0/6 | 0/6 | na |
Genotype | C/A | C/C | C/A | C/C | C/A | C/C | C/C |
Weeks of gestation; w | 33.1 | 37.9 | 40.0 | 39.0 | 40.0 | 40.0 | na |
Birth length; cm; SDS | 31.5; − 5.74 | 49; − 0.01 | 41; − 5.38 | 54; + 1.92 | 52; + 1.04 | 52; + 1.04 | na |
Birth weight; g; SDS | 770; − 4.26 | 2485; − 1.75 | 1560; − 5.21 | 4220; + 1.59 | 2800; − 1.73 | 3900; + 0.87 | na |
Head CCF at birth; cm; SDS | 25.5; − 3.54 | 30.0; − 2.87 | 31.0; − 2.14 | 36.0; + 0.83 | na | 35.0; + 0.35 | na |
Head CCF at approx. 2 years; cm; SDS | 46,0; − 2.20 | na | 44.3; − 2.40 | na | na | na | na |
Adult height; cm | na | na | 140.0 | 185.0 | 158.8 | 170 | 165 |
Relative macrocephaly | Y | na | Y | na | na | na | na |
Prominent forehead | Y | N | Y | N | N | N | na |
Feeding difficulties | Y | N | Y | N | N | N | na |
Body asymmetry | N | N | N | N | N | N | na |
ACTH; pmol/l | 3.5 | nd | nd | nd | 5.3 | nd | nd |
Cortisola; nmol/l | 265 | nd | 309 | nd | 204 | nd | nd |