Table 1.

Main Clinical Findings in the Four Studied Individuals with GAPO Syndrome

Features	Cases
	V-3 from EGY1	VI-4 from EGY2	II-1 from CZE1	III-1 from SRI1
General
Age at evaluation (years)	3	10	18	4
Gender	male	male	male	male
Parental consanguinity (first or second cousins)	+	+	−	+
Family history of similarly affected case	−	+	−	−
Height	–2 SDs	–3.7 SDs	–4 SDs	–4 SDs
Head circumference	–2 SDs	+2 SDs	+1 SD	–2 SDs
Bone age	delayed	mild delay	normal for age	delayed
Craniofacial
Plagiocephaly	+	+	+	−
Frontal bossing	+	+	+	+
Broad forehead	+	+	+	+
Enlarged persistent anterior fontanel	+	+	+	+
Widely spaced eyes	+	+	+	+
Epicantus	+	+	−	+
Depressed nasal bridge	+	+	+	+
Short nose	+	+	+	+
Long philtrum	+	+	+	+
Thick and anteverted nares	+	+	+	+
Thick lower lip	+	+	+	+
Micrognathia	+	+	+	+
Pseudoanodontia	+	+	+	+
Skin and Hair
Sparse scalp hair (alopecia)	+	+	+	+
Scalp pigmented with scars and papules	−	+	−	−
Sparse eyebrows and eyelashes	+	+	+	+
Ophthalmologic
Megalocornea	+	+	+	NR
Nystagmus	+	−	−	+
Esotropia	+	−	+	−
Shallow anterior chamber	−	+	+	NR
Bilateral engorged tortuous retinal vessels	−	+	+	+
Bilateral optic atrophy	+	−	+	+
VEP (abnormal pattern)	+	−	+	NR
Other
Umbilical hernia	+	+	+	−
Hyperextensible joints	+	−	−	+
Mild webbing between fingers	−	+	−	−
Facial nerve palsy	+	−	−	−
MRI brain changes	bilateral high signal of deep white matter at deep parietal and occipital region and around the optic nerve	ND	ND	ND

Abbreviations are as follows: VEP, visual-evoked potential; NR, not recorded; and ND, not done.