Multiorgan developmental anomalies presenting as a variation of the serpentine-like syndrome: cervical fusion and brachioesophagus with intrathoracic stomach and malposition of duodenopancreas and spleen☆
Section snippets
Obstetrical and neonatal background
The 44-year-old mother had experienced 2 previous unsuccessful pregnancies ending with early miscarriage; obstetricians through repeated prenatal ultrasound studies regularly evaluated a third pregnancy. At 16 weeks of gestation, ultrasonographic examination was suggestive of a median diaphragmatic hernia with intrathoracic stomach; the stomach was lying in the posterior mediastinum, causing a mediastinal and cardiac shift to the right. Other anomalies consisted of an abnormal umbilical cord
Discussion
A search using Pubmed, Online Mendelian Inheritance in Man, and Orphanet databases did not indicate any reporting of a similar pattern of malformations. One report by Thakker and Donnai [2] mentions a normal karyotype XX fetus with a “short neck” and a short esophagus with intrathoracic stomach, small intestine, spleen, and pancreas; this fetus presented however many other malformations (multiple dysmorphic facial features, brain, vertebral, and cardiac malformations). Short neck related to
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Cited by (0)
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The authors declare having no conflict of interest.