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

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Abstract

Congenital brachioesophagus with secondary intrathoracic stomach is an extremely rare condition. In association with rachischisis, the latter condition has been described recently as “serpentine-like syndrome.” We report here a unique case of a male infant with normal karyotype from healthy nonconsanguinous parents, presenting with a complex malformative syndrome combining ultrashort brachioesophagus with intrathoracic stomach, duodenum, pancreas, and spleen associated with short neck because of posterior fusion and scoliosis. This case report details aspects of diagnostic and management of this unusual clinical presentation and includes a review of the literature.

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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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