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

Abstract

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.

Trisomy 13 (Patau syndrome) and craniosynostosis

“…Thus, we agree with the suggestion made by Aypar et al [2011] that craniosynostosis, in special premature closure of the metopic suture, may be part of the clinical spectrum present in trisomy 13. More reports will be important to define this hypothesis and to evidence the involvement of other cranial sutures.…”

“…Reports of craniosysnostosis are extremely rare and have been limited especially to the premature closure of the metopic suture [Mankinen and Sears, 1976;Sullivan et al, 1990;Unal et al, 2009;Aypar et al, 2011], as observed in our first patient. Our second patient is the first description in the literature to present a coronal synostosis.…”

“…It is clinical characterized by multiple malformations, involving especially the face, heart, and limbs, besides a very limited survival [Jones, 2006;Pont et al, 2006;Carey, 2010]. Despite the great variability of the clinical picture presented by the syndrome, craniosysnostosis seems to be a feature uncommonly described among these patients [Mankinen and Sears, 1976;Sullivan et al, 1990;Unal et al, 2009;Aypar et al, 2011].…”

Genetic advances in craniosynostosis

“…The molecular etiopathogenesis of the CS phenotype observed in this contiguous gene syndrome has not been clarified to date. Finally, metopic synostosis has also been described in a single patient with mosaic trisomy 13 [Aypar et al, 2011]. Table I summarizes the recurrent chromosomal loci discussed in this section and provides a tentative association with the pattern of suture closure.…”

How to Communicate With a Speech Impaired Person? A Case Study of a Subject With Mosaic Patau Syndrome

“…The genetic origin of trisomy 13 was discovered in 1960 by Klaus Patau and his research group who analysed the clinical data of a female patient born in 1959 (Patau et al 1960). Complete, partial, or mosaic forms of the disease can occur (Aypar et al 2011). The mosaic form is very rare; it occurs in only 5% of all trisomy 13 cases (Magenis et al 1968).…”