DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation
Table 2
Growth features of chromosomal instability syndromes.
Syndrome “Loci”
At-term birth weight/height
Microcephaly
Adult height
Adult onset diseases
Seckel Syndrome “ATR 3q23”
Birth weight below −3 SD (2,055 g)
Severe −4 SD
Postnatal growth retardation (below −5 SD)
Not reported
Fanconi anemia “21 FANC genes”
Median weight: 2.02 kg (1.5–2.6 kg)
In 20–50%
50–60% of patients with median height <−1.8 SDS Women: −3.4 SDS Men: −4.4 SDS
Cancer Diabetes mellitus Dyslipidemia Altered bone mineral density
Nijmegen Breakage Syndrome “NBN 8q21”
Mean weight/height girls 2.7 kg/51.4 cm Mean weight/height boys 2.8 kg/52.3 cm
100%
Mean height for women −1.8 SDS Mean height for men −2.3
Cancer
Bloom Syndrome “BLM 15q26.1”
Mean weight 1.89 kg ± 0.35 kg for boys Mean weight 1.87 kg ± 0.35 kg for girls Mean height 43.4 cm ± 4.4 cm for boys Mean height 43.8 cm ± 2.8 cm for girls
Mild microcephaly
Mean height 145.5 cm ± 7.6 cm males Mean height 141.5 cm ± 6.1 cm for females
