Table 3.
Main clinical manifestations in 47 individuals with PTHS
| Feature | Current study | Published study [2] | Other published study [19] | |||
|---|---|---|---|---|---|---|
| Number | Percent | Number | Percent | Number | Percent | |
| Facial features | ||||||
| Narrow forehead | 4747 | 74% | 127/150 | 85% | – | – |
| Square forehead | 47/47 | 100% | – | – | – | – |
| Prominent forehead | 42/47 | 89% | – | – | – | – |
| Thin lateral eyebrows | 31/47 | 66% | 110/149 | 74% | – | – |
| Wide nasal bridge/ridge/tip | 44/47 | 94% | 137/150 | 91% | 44/45 | 98% |
| Flared nasal alae | 46/47 | 98% | 119/150 | 79% | 27/47 | 57% |
| Full cheeks/prominent midface | 47/47 | 100% | 127/150 | 85% | 36/48 | 77% |
| Wide mouth/full lips/cupid bow upper lip | 47/47 | 100% | 142/150 | 95% | 37/48 | 79% |
| Thickened/overfolded helix | 47/47 | 100% | 96/141 | 68% | – | – |
| Short philtrum | 34/47 | 72% | – | – | ||
| Deep-set eyes | 42/47 | 89% | – | – | 23/41 | 56% |
| Up slanting palpebral fissures | 43/47 | 91% | – | – | – | – |
| Widely spaced teeth | 25/33 | 76% | – | – | – | – |
| Short neck | 47/47 | 100% | – | – | – | – |
| Development | ||||||
| Severe ID/GDD | 42/44 | 95% | 146/150 | 97% | 48/48 | 100% |
| Very limited or absent speech | 29/32 | 91% | 135/150 | 90% | 32/48 | 68% |
| Delayed gross motor development | 47/47 | 100% | 142/149 | 95% | 44/48 | 94% |
| Gait ataxia | 27/29 | 93% | 88/128 | 69% | 26/48 | 55% |
| Hypotonia | 38/41 | 93% | 104/142 | 73% | 27/48 | 57%, > 90%[20] |
| Autonomic dysregulation | ||||||
| Breathing anomalies | 19/45 | 42% | 81/145 | 56% | 19/48 | 40% |
| Intermittent hyperventilation | 17/45 | 38% | 72/145 | 50% | – | – |
| Apnea | 4/45 | 9% | 61/145 | 42% | – | 48% |
| Gastrointestinal abnormalities | ||||||
| Constipation | 31/47 | 66% | 115/142 | 81% | 40/48 | 85% |
| Food intolerances/allergy | 17/21 | 81% | – | – | – | – |
| Sleep disturbances | 2/27 | 7% | – | – | 7/39 | 18% [6] |
| Neurological/behavioral features | ||||||
| Microcephaly | 3/47 | 6% | 28/144 | 19% | 84/144 | 59% |
| Brain MRI abnormalities | 30/38 | 79% | – | – | – | 60–70%[20] |
| Ventricle enlargement | 17/38 | 45% | – | – | – | – |
| Wide extracranial space | 13/38 | 34% | – | – | – | – |
| Myelination dysplasia/delay | 7/38 | 18% | 36/96 | 38% | – | – |
| Corpus callosum hypoplasia or agenesis | 5/38 | 13% | – | – | – | – |
| Frontal lobe dysplasia | 2/38 | 5% | ||||
| Electroencephalogram abnormalities | 5/33 | 15% | – | – | – | – |
| Seizures | 5/46 | 11% | 55/1 | 37% | 17/47 | 36% |
| Smiling appearance | 31/34 | 91% | 31/140 | 22% | 82/94 | 97% |
| Anxiety/agitation | 15/31 | 48% | – | – | 32/67 | 48% |
| Autism spectrum disorder | 10/15 | 67% | 61%[18] | |||
| Regression | 3/47 | 6% | 6/150 | 4% | – | – |
| Visual anomalies | 35/41 | 85% | – | – | 25/48 | 53% |
| Myopia | 22/34 | 65% | 78/144 | 54% | 110/207 | 54% |
| Strabismus | 25/35 | 71% | 70/144 | 49% | 114/234 | 49% |
| Astigmatism | 19/34 | 56% | 45/144 | 31% | – | – |
| Hand features | ||||||
| Slender fingers | 47/47 | 100% | 63/130 | 48% | – | – |
| Single transverse palmar crease | 22/35 | 64% | 60/120 | 50% | 65/109 | 60% |
| Stereotypic hand movements | 39/39 | 100% | 87/146 | 60% | 83/107 | 78% |
| Genitourinary features | ||||||
| Small penis/ Cryptorchidisma | 9/14 | 64% | – | – | – | 33% |
aOnly male patients were counted