Branchio-oculo-facial syndrome associated with a white forelock.

Abstract

We report a father and his daughter with branchio-oculo-facial syndrome. Since birth the father, and to a lesser extent his daughter, demonstrated a white forelock which has not been reported before as associated with this syndrome. The analysis of the second to the eighth exon of PAX3 genes did not reveal any abnormality. The analysis of the EYA1 gene is proposed as well.

• Authors: A Mégarbané, N Hawat, P Chedid, J Bleik, A L Délézoïde
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 7 Issue 3 Pg. 221-3 (Jul 1998) ISSN: 0962-8827 [Print] England
• PMID: 9689999 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Branchial Region (abnormalities)
• Eye Abnormalities
• Facies
• Female
• Hair Color
• Humans
• Male
• Syndrome