Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome
M. Golabi, J. Carey and B. D. Hall
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.
