Table 1.
Detailed Extra-neurological Phenotype of Individuals with PACS2 p.Glu209Lys
| Individual 1 | Individual 2 | Individual 3 | Individual 4 | Individual 5 | Individual 6 | Individual 7 | Individual 8 | Individual 9 | Individual 10 | Individual 11 | Individual 12 | Individual 13 | Individual 14 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender | F | F | M | F | M | M | M | F | F | M | M | F | F | F |
| Gestational age (WG) | 38 | 37 | 38 | 35 | 37 | 40 | at term | 37 | at term | at term | 39.5 | 34 | 33 | 39 |
| Birth Parameters | ||||||||||||||
| Weight | −0.3 SD | median | +2 SD | +1.8 SD | −1.7 SD | +2.5 SD | +1 SD | −3 SD | median | NA | median | +0.5 SD | −0.5 SD | +0.6 SD |
| Length | +0.6 SD | NA | NA | NA | −0.9 SD | +2 SD | +1 SD | −1.5 SD | −2 SD | NA | −1 SD | −1.5 SD | median | +0.9 SD |
| OFC | +0.4 SD | NA | NA | NA | −2.3 SD | >3 SD | median | −2.3 SD | median | NA | median | NA | median | −0.1 SD |
| Growth Parameters | ||||||||||||||
| Age at last follow-up | 16 year | 4 year | 15 year | 8 year | 19 mo | 8 year | 16 mo | 5 year | 3 year | 7 year | 12.5 year | 9 mo | 3.5 year | 5.5 year |
| Weight | +1 SD | median | +1.6 SD | +1.5 SD | −1.0 SD | +0.5 SD | +1.5 SD | −1 SD | median | +1.3 SD | +2.5 SD | +1 SD | median | −2 SD |
| Height | +2 SD | median | +0.7 SD | −0.8 SD | −1.8 SD | +2 SD | −1 SD | −0.5 SD | −0.7 SD | +1.8 SD | −1 SD | - | median | −0.4 SD |
| OFC | median | +1 SD | −0.7 SD | +0.4 SD | −1.9 SD | +2 SD | −1 SD | −1 SD | −1.0 SD | +0.4 SD | median | −1.5 SD | +1 SD | −1.4 SD |
| Facial Dysmorphism | ||||||||||||||
| Synophris | + | + | + | + | − | − | − | − | + | “mildly dysmorphic”∗ | − | − | − | − |
| Hypertelorism | + | + | + | + | − | − | − | + | − | − | + | + | − | |
| Down-slanting palpebral fissures | + | + | + | + | − | + | + | + | − | − | − | + | − | |
| Broad nasal root | − | + | − | + | + | − | + | + | + | + | + | + | + | |
| Thin vermillon of upper lip | + | + | + | + | + | + | − | + | + | + | + | + | + | |
| Wide mouth with downturned corners | + | + | + | + | +/− | − | − | + | − | + | + | + | − | |
| Prominent incisors | + | − | + | + | NA | − | NA | − | − | − | NA | NA | − | |
| Widely spaced teeth | + | − | + | − | NA | − | NA | − | − | + | NA | NA | − | |
| Everted vermillon of lower lip | + | − | + | − | − | + | − | − | − | − | − | + | + | |
| Distal limb anomalies | slender fingers | − | 2/3 syndactyly of toes | − | V finger clinodactyly, variant transverse palmar crease | finger pads | − | − | − | bilateral palmar crease | broad and tapering short fingers, V finger brachyclino-dactyly | V finger clinodactyly | - | right transverse palmar crease, V finger clinodactyly |
| Hematological Anomalies | ||||||||||||||
| Neutropenia | moderate | − | − | − | − | NA | − | − | − | − | − | − | − | − |
| Anemia | − | + | − | + | + | NA | mild | − | − | − | − | − | − | − |
| Eye/hearing features | moderate myopia | − | − | strabismus | strabismus | strabismus astigmatism, myopia, anisocoria | − | hypermetropic astigmatism | myopia, astigmatism, cortical visual impairment | − | hypermetropic astigmatism, frequent otitis | − | − | − |
| Additional clinical features | metatarsus varus | dextrocardia | cryptorchidism | none | none | small ventricular septal defect, testis ectopia | cryptorchidism, 1 cm café au lait birthmark, mild conductive hearing loss, poor feeding, frequent ear and respiratory infections | none | dysphasia, accessory caudally placed nipples | none | micropenis, unilateral cryptorchidism, infantile hypertrophic pyloric stenosis, velopharyngeal hypotonia, central precocious puberty | brachycephaly, inverted nipples | atrial septal defect, sacral pit | features consistent with Chinese heritage |
Abbreviations: F, female; M, male; m, median; mo, months; NA, not available; SD, standard deviation; year, years; ∗ no details available.