A case of tracheal agenesis delivered of a patient with mosaic Turner's syndrome.
We describe a female infant with tracheal agenesis associated with severe complicated malformations including the cardiovascular system. The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios. The patient died 2 days after birth and the autopsy disclosed tracheal agenesis and associated multiple anomalies.
Hirahara
F
F
Department of Obstetrics and Gynecology, Yokohama City University School of Medicine, Kanagawaken, Japan.
Miyagi
E
E
Yamanaka
M
M
Minaguchi
H
H
Ogita
Y
Y
Ohaki
Y
Y
Misugi
K
K
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics; D011247:Pregnancy; D014132:Trachea / Q000002:abnormalities*; D014424:Turner Syndrome / Q000235:genetics