| Literature DB >> 1481847 |
A Gonzalez-del Angel1, A Carnevale, R Takenaga.
Abstract
We report on a girl and her mother with delayed intramembranous ossification of the cranial vault. The 11-month-old girl had a large ossification defect involving parietal bones, squamous portion of temporal bones, and interparietal region of occipital bone, while the mother showed a complete ossified cranial vault with flat posterior parietal region and prominent occiput. Both had a similar face characterized by frontal bossing, hypertelorism, downward slant of palpebral fissures, flat nasal bridge, and short midface. On reviewing the literature, we concluded that these cases may be a dominant transmitted ossification defect with characteristic face, different from the cranium bifidum-parietal foramina entity.Entities:
Mesh:
Year: 1992 PMID: 1481847 DOI: 10.1002/ajmg.1320440613
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299