Opitz C trigonocephaly syndrome and midline brain anomalies

Giuseppe Zampino, Concezio Di Rocco, Gianfranco Butera, Francesca Balducci, Cesare Colosimo, Maria Giulia Torrioli, Pierpaolo Mastroiacovo

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip 'dysplasia,' equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.

Original languageEnglish
Pages (from-to)484-488
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume73
Issue number4
DOIs
Publication statusPublished - Dec 31 1997

Keywords

  • C syndrome
  • Corpus callosum agenesis
  • Craniosynostosis
  • Dandy-Walker malformation
  • Mental retardation
  • Midline developmental field
  • Trigonocephaly

ASJC Scopus subject areas

  • Genetics(clinical)

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