title: Fronto-facio-nasal dysplasia.
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.
authors.affiliation: SA Clinical Genetics Service, Women's & Children's Hospital, North Adelaide, Australia. suthersg@wch.sa.gov.au
authors.forename: G
authors.initials: G
authors.lastname: Suthers
authors.forename: D
authors.initials: D
authors.lastname: David
authors.forename: B
authors.initials: B
authors.lastname: Clark
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D004677:Encephalocele / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome