. Author manuscript; available in PMC: 2021 Jul 1.

Published in final edited form as: Am J Med Genet A. 2020 Oct 24;185(1):119–133. doi: 10.1002/ajmg.a.61926

Table 1:

Features reported in individuals diagnosed with Dubowitz syndrome

Feature	Total Frequency (%)(n=31^*)	Those with a molecular diagnosis (n=14^*)	Those without a molecular diagnosis^† (n=8^*)
Intrauterine growth restriction	16/26 (62%)	9/14	2/5
Short stature (less than -2SD)	11/25^** (44%)	7/13	2/6^**
Microcephaly (less than -2SD)	20/25 (80%)	11/13	4/5
Intellectual disability (includes mild, moderate, severe and profound when specified)	20/21 (95%)	13/13	4/5
Behavioral concerns (eg ADHD)	15/22 (68%)	8/12	4/4
Sloping forehead	7/23 (30%)	4/11	3/5
Telecanthus/hypertelorism/ptosis/ blepharphimosis	26/27 (96%)	14/14	4/5
High-pitched voice	9/20 (45%)	5/11	2/3
Micrognathia	17/23 (74%)	8/12	1/3
History of eczema	17/27 (68%)	7/13	6/6
Malignancy	1/23 (4%)	1/13	0/4

The denominator varies for each feature and is dependent on the available clinical information for the 31 reported individuals with the Dubowitz phenotype.

^**

Two individuals were described as “short” with no measurements provided, 13/27 (48%).

^†

This column is comprised of 8 individuals without (1) a formal diagnosis or without a compelling VUS in a known gene or without a compelling variant in a gene of interest.