Table 3:

Anatomic abnormalities of head and neck in HGPS

Present (No.) (% of visualized)Absent (No.)N/V(No.)
Scalp, calvarium, and skull base features
    Craniofacial disproportion23 (92)20
    Thinned calvarium20 (95)14
    Mottled bone appearancea10 (59)78
    Prominent vascular markingsa9 (90)115
    Skull fractures2 (8)221
    Delayed closure of the anterior fontanelb9 (56)75
    Widened sutures7 (41)101
    J-shaped sellaa17 (89)26
    Lack of scalp fat21 (91)22
Oral maxillary and parotid gland features
    Shortened ramus/mandibular hypoplasia15 (83)37
    Flattened mandibular condylea6 (43)811
    Hypoplastic articular eminence and     shallow glenoid fossaa6 (43)811
    Thin zygomatic archa6 (50)613
    V-shaped palate9 (45)115
    Disorganized dentition10 (50)105
    Prominent parotid glanda13 (100)012
Orbital/facial features
    Narrow nasal bridge with pointed tip14 (61)92
    Hypotelorism19 (86)33
    Optic nerve kinkinga17 (89)26
  • Note:—N/V indicates feature not well-visualized.

  • a Newly identified features.

  • b Includes only those children with open fontanels older than 2 years of age.