Fronto-facio-nasal dysplasia

Graeme Suthers*, David David, Bruce Clark

*Corresponding author for this work

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.

Original languageEnglish
Pages (from-to)245-249
Number of pages5
JournalClinical Dysmorphology
Volume6
Issue number3
DOIs
Publication statusPublished - 1997
Externally publishedYes

Keywords

  • Fronto-facio-nasal dysplasia
  • Tessier clefts

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