Associated brachial cleft anomalies in the cat eye syndrome

Galit Avior, Ari Derowe, Dan M. Fliss, Leonor Leicear-Trejo, Itzhak Braverman

Research output: Contribution to journalArticlepeer-review

Abstract

The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

Original languageEnglish
Pages (from-to)99-101
Number of pages3
JournalHarefuah
Volume146
Issue number2
StatePublished - Feb 2007
Externally publishedYes

Keywords

  • 1 branchial cleft anomaly
  • Cat eye syndrome
  • Partial trisomy of chromosome 22-dic (22)(q11.1)
  • Preauricular skin tags

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