Neonatal multiple hyperplastic oral frenulae and bilobulated tongue

Orietta Gerola, R. M. Cerbo, B. Franco, G. Rondini

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a newborn female who presented at birth multiple hyperplastic oral frenula, bilobulated tongue with hamartoma, notched upper lip, hypoplasia of the alae nasi, clinodactily. These abnormalities in a newborn female led us to make a diagnosis of OFD1, an X-linked dominant syndrome. Molecular analysis showed the deletion of one base in exon 16 of the gene OFD1. Given the phenotypic variability and high percentage of "de novo" mutations, the presence of maternal mutations has to be studied in order to provide the parents with the appropriate genetic information.

Original languageEnglish
Pages (from-to)323-325
Number of pages3
JournalItalian Journal of Pediatrics
Volume29
Issue number5
Publication statusPublished - Oct 2003

Keywords

  • Abnormal frenulae
  • Hamartoma
  • Notched tongue
  • X-linked dominant inheritance

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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