Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses

Am J Med Genet A. 2018 Nov;176(11):2325-2330. doi: 10.1002/ajmg.a.40505. Epub 2018 Oct 17.


Trisomy 13 or Patau syndrome (PS) is a well-known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the literature, most of which were live-born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), were examined. The main defects observed were similar to those described in live-born patients: congenital heart defects (76%), holoprosencephaly spectrum anomalies including arhinencephaly and hypotelorism (74%), urinary tract anomalies (71%), ear anomalies (69%), postaxial polydactyly (67%), anogenital anomalies (60%), anophthalmos, and/or microphthalmos (53%), brachycephaly (45%), and oro-facial clefts (45%). A duplication or triplication of at least one distal phalanx of the thumb or hallux was present in 38% of fetuses. This sign has only been reported previously in one patient in the literature. Fetal examination in trisomy 13, is thus, useful to complete the phenotype or to orient diagnosis toward trisomy 13 in the absence of cytogenetic analysis.

Keywords: Patau syndrome; extremity anomalies; fetal X-rays; fetal examination; pathological examination; trisomy 13.

MeSH terms

  • Fetus / abnormalities*
  • Finger Phalanges / abnormalities*
  • Hallux / abnormalities*
  • Humans
  • Thumb / abnormalities*
  • Toe Phalanges / abnormalities*
  • Trisomy 13 Syndrome / pathology*