A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature

Am J Med Genet A. 2011 Mar;155A(3):638-41. doi: 10.1002/ajmg.a.33839. Epub 2011 Feb 22.


Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46,XX[58]/47,XX,+13[42]. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 13 / genetics*
  • Craniosynostoses / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Mosaicism*
  • Pregnancy
  • Trisomy / genetics*