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June 1984

Parietal Foramina Clavicular Hypoplasia: An Autosomal Dominant Syndrome

Author Affiliations

From the Craniofacial Center, Department of Pediatrics, University of California School of Medicine and the Department of Pediatrics, Mount Zion Medical Center, San Francisco (Dr Golabi), the Department of Pediatrics, University of Utah School of Medicine, Salt Lake City (Dr Carey), and the Department of Pediatrics, Division of Genetics and Dysmorphology, University of Kentucky School of Medicine, Lexington (Dr Hall).

Am J Dis Child. 1984;138(6):596-599. 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 greataunts. 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.

(AJDC 1984;138:596-599)

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