Skip to main content

Table 3 Proposed criteria for unbiased genetic studies in ISS

From: Towards identification of molecular mechanisms of short stature

Criteria

Severe short stature, height < -3 SDS for CNV, <-4 SDS for whole exome sequencing;

Disproportionate short stature within family, height < -2 SDS from midparental target height;

Height < -2 SDS AND major congenital abnormalities or neurocognitive disorder;

Short stature segregating within the family in a dominant pattern;

History of consanguinity