These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Fetal facial defects: associated malformations and chromosomal abnormalities.
    Author: Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM.
    Journal: Fetal Diagn Ther; 1993; 8(1):1-9. PubMed ID: 8452644.
    Abstract:
    During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48%) with cleft lip and palate, in 5 of 11 (45%) with severe hypotelorism or cyclops, and in 6 of 19 (32%) with nasal hypoplasia, proboscis or single nostril. Macroglossia was mainly associated with trisomy 21, micrognathia with trisomy 18 and triploidy, facial cleft with trisomies 13 and 18, and ocular or nasal defects with trisomy 13. In all chromosomally abnormal fetuses with facial defects, there were additional multisystem defects, and the pattern of these malformations was compatible with the type of the underlying chromosomal abnormality. In the total series of 2,086 fetuses with malformations and/or growth retardation, there were 31 with trisomy 13, 83 with trisomy 18 and 69 with trisomy 21; facial defects were found in 71, 36 and 14% of these fetuses, respectively.
    [Abstract] [Full Text] [Related] [New Search]