A newborn with monosomy X in association with corpus callosum agenesis
Articles > Article · 2016
Authors: Duygu Onur Cura, Burcin Iscan, Semra Gursoy, Handan Guleryuz, Tufan Cankaya, Tülay ÖZTÜRK ATASOY, Ozlem Giray Bozkaya
Pediatrics & Neonatology, International, WoS, 2016, vol 58, pp 455-457
DOI: 10.1016/j.pedneo.2016.05.006
Summary
Turner syndrome (TS) is a genetic disease defined as a complete or partial absence of the X chromosome. The incidence of TS has been reported as approximately 1 in 2500 female births. TS is characterized by certain typical features, such as a short stature, primary amenorrhea, a webbed neck, cubitus valgus, lymphedema (particularly during infancy), and cardiovascular and renal abnormalities. Central nervous system (CNS) malformations are rarely seen in TS patients. Agenesis of the corpus callosum (ACC) has been described in only five patients with TS in the literature.