Table 1. Comparison of the three children with 8q12 duplication, inspired by Lehman et al ¹⁷.

Patient reported	Monfort et al 16	Lehman et al 17	Present report
Neonatal hypotonia	+	+	+
OFC	NR	Microcephaly	Normal
Facial features	+	+	+
Flaring of eyebrows	+	+	+
Horizontal eyebrows	+	+	+
Wide nasal root	+	NR	+
Bulbous nasal tip	+	NR	+
Full cheeks	+	NR	+
Long philtrum	+	NR	+
Wide mouth	NR	NR	+
Full lower lip	+	NR	+
Duane retraction syndrome	+ (Undefined)	+ (Type 1)	+ (Type 1)
Deafness	+	+ (With Mondini dysplasia)	−
Motor development delay	+	+	+
Language delay	NR	+	+
Intellectual disability	+	NR	−
Behaviour	Hyperactivity	NR	Autistic features
Feeding difficulties	NR	+	+
Heart malformation	PS, VSD	ASD, VSD	−
Renal features	NR	Vesicular reflux	Kidney hypoplasia
Limbs	NR	Brachydactyly	Normal
Constipation	NR	+	+

Abbreviations: ASD, atrial septal defect; NR, not reported; OFC, occipito–frontal circumference; PS, pulmonary stenosis; VSD, ventricular septal defect.