Table 1.

Clinical diagnostic tools proposed by Whalen et al. and Marangi et al.

Whalen et al Clinical Diagnostic Score		Marangi et al Clinical Diagnostic Score
Frequent Features	Positive Points
Deep set eyes	1	Moderate to severe intellectual disability	2
Protrusion of mid and/or lower face	1	Absent speech	2
Marked nasal root	1	Severe speech impairment with more than 10 words vocabulary and/or capacity to form 2–3 word sentences	1
Broad/beaked nasal bridge	1	Normal growth parameters at birth	1
Flared nostrils	1	Postnatal microcephaly or progressive slowing down of head circumference	1
Large mouth	1	Epilepsy/EEG abnormalities	1
Tented upper lip/prominent Cupid’s bow	1	Ataxic gait/Motor incoordination	1
Everted lower lip	1	Breathing Abnormalities: Hyperventilation fits or apnea episodes	1
Walking >3 years or severe motor delay <3 years	2	Mild to severe constipation	1
Ataxic gait	1	Brain MRI abnormalities (corpus callosum hypoplasia, enlargement of the ventricles, and thin hindbrain)	1
Absent language (or <5 words)	2	Ophthalmologic abnormalities (strabismus, myopia, and astigmatism)	1
Stereotypic movements of the head +/− hands	2	Typical PTHS facial features	4
Hyperventilation	1	Facial features only partially consistent with PTHS	2
Hypotonia	1	Maximum Score = 16
Smiling appearance	1	>/= 10 should prompt testing for PTHS
Anxiety/Agitation	1
Strabismus	1
Unusual Features	Negative Points
Microcephaly </= =3 SD	−2
Overgrowth	−1
Visceral malformations	−1
Loss of purposeful hand skills	−1
Maximum Score = 20
>15 indication for TCF4 screening
10–15 consider TCF4 screening if <3 yr
<10 no indication for TCF4 screening