Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome

Am J Dis Child. 1984 Jun;138(6):596-9. doi: 10.1001/archpedi.1984.02140440080022.


A male infant was evaluated with macrocephaly, scaphocephaly , a high forehead, a parietal foramen, a midline posterior occipital dermoid, and sloped shoulders. A skeletal survey also showed distal hypoplasia of the clavicles with bilateral loss of the acromion. Similar features were evident in his father, grandfather, and two paternal great-aunts. To our knowledge, this is the second report of this syndrome, which may be designated as parietal foramina-cleidocranial dysplasia. Our three-generation family and male-to-male transmission clearly established an autosomal dominant mode of inheritance for this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Clavicle / abnormalities*
  • Clavicle / diagnostic imaging
  • Humans
  • Infant
  • Male
  • Parietal Bone / abnormalities*
  • Parietal Bone / diagnostic imaging
  • Pedigree
  • Radiography
  • Syndrome