PEDIATRICS Vol. 92 No. 3 September 1993, pp. 456-457
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Turner Syndrome With Unusual Conotruncal Defect

LUCA ROSTI MD1, PIERLUIGI FESTA MD2, ALESSANDRO FRIGIOLA MD2, and DARIO ROSTI MD3

1 Neonatal Intensive Care Unit, Ospedale Regina Elena, Milan, Italy and Dept of Pediatric Cardiac Surgery/Cardiology, Center "E. Malan" for the Therapy of Cardiovascular Diseases, San Donato Milanese Hospital, San Donato Milanese, Italy
2 Dept of Pediatric Cardiac Surgery/Cardiology, Center "E. Malan" for the Therapy of Cardiovascular Diseases, San Donato Milanese Hospital, San Donato Milanese, Italy
3 Neonatal Intensive Care Unit, Ospedale Regina Elena, Milan, Italy

The Turner syndrome is a frequently occurring chromosomal syndrome. It is characterized by X monosomy, mosaicism 45X/46XX, partial deletion of X chromosome, and various rearrangements of X chromosome, leading to several clinical features and congenital anomalies: short stature, webbing of the neck (pterygium colli), nuchal cystic hygroma, hypogonadism, with absent ovarian tissue, and renal anomalies.1 Congenital heart defects occur often in the Turner syndrome1,2; there is a high prevalence of coarctation of the aorta3-5 and bicuspid aortic valve6; ventricular septal defects, atrial septal defects, and hypoplastic left heart syndrome are less frequent.7,8

Conotruncal defects have never been reported, to our knowledge, in patients with the Turner syndrome.

Submitted on January 20, 1993
Accepted on March 4, 1993