Abstract
An unusual anatomic configuration of segmental tracheal agenesis/atresia with esophageal duplication on autopsy in a fetus that demised in utero at 29 weeks is reported. The mother was scanned initially for a cardiac anomaly at 20 weeks and on follow-up scan at 27 weeks had polyhydramnios and underwent amnioreduction. The final autopsy diagnosis was vertebral, ano-rectal, cardiac, tracheoesophageal, renal, and limb malformations (VACTERL). We discuss the autopsy findings along with the embryological mechanisms and compare the configuration with Floyd's classification for tracheal agenesis. The difficulties in prenatal diagnosis are discussed.
Keywords:
esophageal duplication, segmental anomalies, tracheal atresia.
MeSH terms
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Abnormalities, Multiple*
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Adult
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Anal Canal / abnormalities*
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Anal Canal / embryology
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Autopsy
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Biopsy
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Constriction, Pathologic / diagnosis*
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Constriction, Pathologic / embryology
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Constriction, Pathologic / genetics
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Esophagus / abnormalities*
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Esophagus / embryology
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Female
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Fetal Death
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Genetic Predisposition to Disease
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Gestational Age
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Heart Defects, Congenital / diagnosis*
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Heart Defects, Congenital / embryology
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Heart Defects, Congenital / genetics
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Humans
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Kidney / abnormalities*
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Kidney / embryology
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Limb Deformities, Congenital / diagnosis*
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Limb Deformities, Congenital / embryology
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Limb Deformities, Congenital / genetics
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Phenotype
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Predictive Value of Tests
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Spine / abnormalities*
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Spine / embryology
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Trachea / abnormalities*
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Trachea / embryology
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Ultrasonography, Prenatal
Supplementary concepts
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Tracheal agenesis
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VACTERL association