Literature DB >> 1481847

Delayed membranous cranial ossification in a mother and child.

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.

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Year:  1992        PMID: 1481847     DOI: 10.1002/ajmg.1320440613

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Authors:  Simeon A Boyadjiev; Cristina M Justice; Wafaa Eyaid; Victor A McKusick; Ralph S Lachman; Arnab B Chowdry; Monzer Jabak; Johan Zwaan; Alexander F Wilson; Ethylin Wang Jabs
Journal:  Hum Genet       Date:  2003-04-03       Impact factor: 4.132

2.  Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

Authors:  Magda A Meester-Smoor; Marcel Vermeij; Marjolein J L van Helmond; Anco C Molijn; Karel H M van Wely; Arnold C P Hekman; Christl Vermey-Keers; Peter H J Riegman; Ellen C Zwarthoff
Journal:  Mol Cell Biol       Date:  2005-05       Impact factor: 4.272

  2 in total

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