[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report]

Arch Argent Pediatr. 2015 Oct;113(5):e290-3. doi: 10.5546/aap.2015.e290.
[Article in Spanish]

Abstract

We report a male infant with midline defects, congenital heart disease and polydactyly, features suggestive of trisomy 13. However, the report of the karyotype was normal. By clinical findings the final diagnosis was likely to be Pseudotrisomy 13. Although the prognosis is poor in both conditions, the genetic study is always necessary to establish an adequate genetic counseling. Although there are syndromes with similar presentation as Meckel syndrome, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome and hydrolethalus, it is possible to make a diagnostic approach based on the perinatal history, birth weight, survival time, and some characteristics of each syndrome. However, limitations may exist to perform genetic studies in some countries, therefore the clinical criteria may be relevant.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 13
  • Cleft Lip / diagnosis*
  • Cleft Palate / diagnosis*
  • Fetal Macrosomia / diagnosis*
  • Hand Deformities, Congenital / diagnosis*
  • Holoprosencephaly / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Polydactyly / diagnosis*
  • Trisomy / diagnosis*

Supplementary concepts

  • Pseudotrisomy 13 syndrome