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Fronto-facio-nasal dysplasia.
Clin Dysmorphol. 1997 Jul; 6(3):245-9.CD

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+Show Affiliations

SA Clinical Genetics Service, Women's & Children's Hospital, North Adelaide, Australia. suthersg@wch.sa.gov.auNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

9220195

Citation

Suthers, G, et al. "Fronto-facio-nasal Dysplasia." Clinical Dysmorphology, vol. 6, no. 3, 1997, pp. 245-9.
Suthers G, David D, Clark B. Fronto-facio-nasal dysplasia. Clin Dysmorphol. 1997;6(3):245-9.
Suthers, G., David, D., & Clark, B. (1997). Fronto-facio-nasal dysplasia. Clinical Dysmorphology, 6(3), 245-9.
Suthers G, David D, Clark B. Fronto-facio-nasal Dysplasia. Clin Dysmorphol. 1997;6(3):245-9. PubMed PMID: 9220195.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fronto-facio-nasal dysplasia. AU - Suthers,G, AU - David,D, AU - Clark,B, PY - 1997/7/1/pubmed PY - 1997/7/1/medline PY - 1997/7/1/entrez SP - 245 EP - 9 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 6 IS - 3 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/9220195/Fronto_facio_nasal_dysplasia_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9220195.ui DB - PRIME DP - Unbound Medicine ER -