Prenatal ultrasound diagnosis of frontonasal dysplasia

Pasquale Martinelli, Rosa Russo, Annalisa Agangi, Dario Paladini

Research output: Contribution to journalArticle

Abstract

We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy.

Original languageEnglish
Pages (from-to)375-379
Number of pages5
JournalPrenatal Diagnosis
Volume22
Issue number5
DOIs
Publication statusPublished - 2002

Keywords

  • Agenesis of the corpus callosum
  • Frontonasal dysplasia
  • Hemimega-lencephaly
  • Median cleft syndrome
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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