Premium
THE CAT‐EYE SYNDROME WITH UNUSUAL SKELETAL MALFORMATIONS
Author(s) -
BALCI SEVIM,
HALICIOGLU CHARLOTTE,
SAY BURHAN,
TAYSI KUTAY
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04858.x
Subject(s) - medicine , aplasia , agenesis , anal atresia , thumb , anatomy , syndactyly , skeletal survey , surgery , atresia , multiple myeloma
. Balci, S., Halicioglu, C., Say, B. and Taysi, K. (Department of Pediatrics and Division of Clinical Genetics, Hacettepe University, Ankara, Turkey). The cat‐eye syndrome with unusual skeletal malformations. Acta Paediatr Scand, 63: 623, 1974.—A fifteen day old female infant with anal atresia, rectovaginal fistula, short left forearm and agenesis of the left thumb is presented. In addition, the patient had a small, extra chromosome which was associated with D or G group chromosomes. The skeletal survey revealed aplasia of the first rib on the right as well as aplasia of the radial bone, first metacarp and thumb on the left. These radiological findings associated with the cat eye syndrome have not been reported previously.