Delayed membranous cranial ossification in a mother and child.
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.
Gonzalez-del Angel
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A
Department of Genetics, Instituto Nacional de Pediatría, Mexico, D.F.
Carnevale
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A
Takenaga
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R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D010012:Osteogenesis; D012886:Skull / Q000002:abnormalities*