Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.
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.
D000328:Adult; D002968:Clavicle / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010294:Parietal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D013577:Syndrome