Short hard palate in prenatal trisomy 21

Abstract

The main conclusion of our study is that the total palatal length in prenatal trisomy 21 is shorter than normal and that this is due both to a shortness of the maxillary and the palatine components of the hard palate.

Effects of aneuploidy on skull growth in a mouse model of Down syndrome

“…One ML distance, representing the width of the maxilla (ld 8-to-9), demonstrates significantly reduced growth in width of the trisomic palate. The reduced growth of the palate contributes to an overall short snout in adult Ts65Dn mice and parallels the reduced growth of the maxilla and palate noted in DS individuals (Fischer-Brandies, 1988;Skrinjaric et al 2004;Lauridsen et al 2005).…”

Prefrontal space ratio: comparison between trisomy 21 and euploid fetuses in the second trimester

“…The findings of this study suggest that measurement of PFSR in the second trimester of pregnancy may be effective in screening for trisomy 21. This novel measurement exploits a combination of two common differences between trisomy 21 and euploid fetuses: increased skin thickening1–4, 11, 12 and midface hypoplasia13, 14, 16–18. It is reproducible and is independent of gestational age within the range of 15–25 weeks.…”

“…Allanson et al 18 specifically found that maxillary growth in relation to the mandible is decreased. Lauridsen et al 11 measured the overall palatal length and the maxillary and palatine bones separately in aborted fetuses with trisomy 21 between 16 and 25 weeks' gestation. They compared these to measurements in matched euploid fetuses and found that the total palatal length was shorter in trisomy 21 fetuses, due to shortness of both maxillary and palatine components of the hard palate.…”

“…Prenatal assessment of these features has been used successfully in screening for this aneuploidy. Trisomy 21 is associated with increased nuchal translucency thickness in the first trimester2, 3, increased nuchal fold thickness4 and prenasal skin thickness5, 6 in the second trimester, and hypoplastic nasal bone7–9, hypoplastic maxilla10, 11 and increased frontomaxillary facial angle (FMF) in both the first and second trimesters12–14. The increase in FMF angle in trisomy 21 fetuses is thought to be a consequence of the smaller size and dorsal displacement of the maxilla associated with this aneuploidy.…”

Frontomaxillary facial angle in trisomy 21 fetuses at 16–24 weeks of gestation

“…Shapiro et al examined 153 patients with trisomy 21 at 7–66 years of age and reported that the length of the palate was below the 2.5 th centile of the normal range in 95%8. Lauridsen et al examined 31 aborted fetuses with trisomy 21 at 16–25 weeks of gestation, and reported that both components of the hard palate, the maxilla and the palatine bones were shorter than in chromosomally normal fetuses9.…”