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Related Experiment Videos

Fronto-facio-nasal dysplasia

G Suthers1, D David, B Clark

  • 1SA Clinical Genetics Service, Women's & Children's Hospital, North Adelaide, Australia. suthersg@wch.sa.gov.au

Clinical Dysmorphology
|July 1, 1997
PubMed
Summary
This summary is machine-generated.

Fronto-facio-nasal dysplasia, a rare genetic disorder, causes facial clefts and eye abnormalities. This autosomal recessive condition requires consideration in infants with paramedian facial clefts due to its recurrence risk.

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Area of Science:

  • Genetics
  • Pediatric Medicine
  • Craniofacial Anomalies

Background:

  • Fronto-facio-nasal dysplasia is a rare condition causing paramedian facial clefts.
  • Key features include nasal defects, blepharophimosis, lagophthalmos, S-shaped palpebral fissures, and ocular malformations.
  • Distinguishing it from similar conditions like fronto-nasal dysplasia and early amnion rupture sequence is crucial.