| Literature DB >> 6720648 |
Abstract
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.Entities:
Mesh:
Year: 1984 PMID: 6720648 DOI: 10.1001/archpedi.1984.02140440080022
Source DB: PubMed Journal: Am J Dis Child ISSN: 0002-922X