Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: A new form of acrofacial dysostosis

Nara Lygia De Macena Sobreira, Maria Tereza S. Alves, Ana Beatriz Alvarez Perez, Decio Brunoni, Mirlene C.S.P. Cernach

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

Original languageEnglish (US)
Pages (from-to)145-148
Number of pages4
JournalClinical Dysmorphology
Volume17
Issue number2
DOIs
StatePublished - Apr 2008
Externally publishedYes

Keywords

  • Acrofacial anomalies
  • Frontonasal dysplasia
  • Mandibulofacial dysostosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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