title: Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?
abstract: BACKGROUND
  New forms and varieties of craniosynostoses are continuously identified due to the current increased interest of clinicians and genetists especially since the introduction of microarray-based comparative genomic hybridization (Array-CGH) techniques in the diagnostic setting of patients with craniofacial anomalies.
  
  
  METHODS
  In this report, we describe the case of an infant who associated the early fusion of the metopic and both the coronal sutures. The interaction of the early fusion of the anterior group of the main cranial sutures gave the infant a particular clinical phenotypes with a Y configuration of the frontal bone and a globally reduced size of the skull. Such a deformity was observed in utero and was subsequently confirmed by the postnatal imaging of the head.
  
  
  RESULTS
  This phenotype was never described previously in antenatal period to our knowledge. The array-CGH showed a heterozygous 9.0 Mb deletion in the chromosomal region 7p21.1p21.3 encompassing approximately 25 other genes, spanning from THSD7A to TWIST1/FERD3L.
  
  
  CONCLUSIONS
  This case further illustrates the variability of the clinical spectrum of craniofacial disorders associated with TWIST1 abnormalities. It is important to note that the Saethre-Chotzen syndrome caused by microdeletion is generally characterized by a mental disability. However, of interest, the postoperative psychomotor development of the child considered hereby was within the normal limits.
authors: Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.
authors: Federico
authors: F
authors: di Rocco
authors: Alexandra
authors: A
authors: Benoit
authors: Jacqueline
authors: J
authors: Vigneron
authors: Pascale Bach
authors: PB
authors: Segura
authors: Olivier
authors: O
authors: Klein
authors: Corinne
authors: C
authors: Collet
authors: Eric
authors: E
authors: Arnaud
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D003393:Cranial Sutures / Q000503:physiopathology*; D003398:Craniosynostoses / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D051879:Twist-Related Protein 1 / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1
keywords: TWIST1; antenatal diagnosis; craniosynostosis; microdeletion