TY - JOUR
T1 - Associated brachial cleft anomalies in the cat eye syndrome
AU - Avior, Galit
AU - Derowe, Ari
AU - Fliss, Dan M.
AU - Leicear-Trejo, Leonor
AU - Braverman, Itzhak
PY - 2007/2
Y1 - 2007/2
N2 - 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.
AB - 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.
KW - 1 branchial cleft anomaly
KW - Cat eye syndrome
KW - Partial trisomy of chromosome 22-dic (22)(q11.1)
KW - Preauricular skin tags
UR - http://www.scopus.com/inward/record.url?scp=34047097891&partnerID=8YFLogxK
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C2 - 17352276
AN - SCOPUS:34047097891
SN - 0017-7768
VL - 146
SP - 99
EP - 101
JO - Harefuah
JF - Harefuah
IS - 2
ER -