Laryngeal atresia or stenosis presenting as second-trimester fetal ascites--diagnosis and pathology in three independent cases.
Congenital atresia of the larynx is a rare abnormality. We describe three cases where prenatal diagnosis during the second trimester showed massive abdominal fetal ascites and at post-mortem, laryngeal atresia was identified in two cases, and severe laryngeal stenosis in the third. All were associated with pulmonary hyperplasia. No additional abnormalities were found in other systems. Overdistended lung tissue and ascites are resultant from aberrant laryngeal growth; laryngeal anomalies are a cause of isolated fetal ascites. The association of ascites and voluminous lungs should arouse suspicion of laryngeal atresia and should be an indication for careful pathological study of the fetal larynx.
Morrison
P J
PJ
Department of Medical Genetics, Belfast City Hospital Trust, U.K.
Macphail
S
S
Williams
D
D
McCusker
G
G
McKeever
P
P
Wright
C
C
Nevin
N C
NC
D000328:Adult; D000649:Amniocentesis; D001201:Ascites / Q000175:diagnosis / Q000209:etiology*; D017218:Cordocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D007829:Laryngostenosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D007830:Larynx / Q000002:abnormalities* / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal