Literature DB >> 1503648

Strawberry-shaped skull in fetal trisomy 18.

K H Nicolaides1, D R Salvesen, R J Snijders, C M Gosden.   

Abstract

During an 8-year period, a strawberry-shaped skull (flattening of the occiput with pointing of the frontal bones), was observed in 54 (3%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. In all 54 cases with a strawberry-shaped skull, there were other fetal malformations; in 43 (80%) fetuses, there was trisomy 18 and in 1 triploidy. Therefore, the ultrasonographic finding of a strawberry-shaped skull should initiate a diligent search for the presence of other markers of trisomy 18 and is a strong indication for fetal karyotyping. However, in the total series of 2,086 fetuses with malformations and/or growth retardation, there were another 40 fetuses with trisomy 18 and 41 with triploidy who did not have a strawberry-shaped skull.

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Mesh:

Year:  1992        PMID: 1503648     DOI: 10.1159/000263660

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  2 in total

1.  The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

Authors:  Marjorie C Gondré-Lewis; Temitayo Gboluaje; Shaina N Reid; Stephen Lin; Paul Wang; William Green; Rui Diogo; Marie N Fidélia-Lambert; Mary M Herman
Journal:  J Anat       Date:  2015-09       Impact factor: 2.610

Review 2.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

  2 in total

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