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The short rib-polydactyly syndromes are a heterogeneous group of lethal autosomal recessive disorders (SRP I–IV), which result from cellular ciliary dysfunction during embryogenesis. Diagnosis is conventionally based on radiographic imaging. Since 1976, postmortem investigations of 5 affected fetuses or stillbirths have been undertaken and the visceral abnormalities have been documented. These anomalies are discussed in the context of prenatal differential diagnosis and prognostication following imaging in pregnancy and at autopsy following miscarriage or stillbirth.

Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract with an estimated incidence of 1:100,000 live births. Fewer still are isolated enteric duplication cysts (IEDC). Accurate diagnosis and timely excision of IEDCs can help in avoiding possible complications including bleeding from gastric mucosa and malignant transformation later in life. Currently, in the paediatric population, there are twenty reported cases in the literature worldwide. Of these, only three have been described in the retro peritoneum. We present a retroperitoneal IEDC, which was juxtaposed to the inferior vena cava. To the best of our knowledge, this has not been reported before in literature.

Heterotaxy, also referred to as atrial isomerism or situs ambiguous, is a rare group of heterogeneous developmental disorders of lateralization, characterized by disruption of the normal left-right axis orientation of visceral organs, including the heart, lungs, stomach, spleen, and liver. Lateralization disorders are divided into incomplete (i.e., heterotaxy), and complete (i.e., situs inversus totalis). Heterotaxy is defined by abnormal assembly of the thoracic and abdominal organs from the normal situs solitus, occurring during early embryonic development. Complex cardiac malformations are a major component of heterotaxy syndrome, with consequent significant morbidity and mortality. Atrial appendage isomerism, with either bilateral right atria (right atrial isomerism) or paired left atria (left atrial isomerism) are a pivotal feature, as well as either asplenia or polyspenia. These two features are the cornerstones of the morphologic classification of these disorders. This case study reports autopsy findings in a 39 week old neonate with heterotaxy syndrome, born to a 25 year old G2 P1 mother with no family history of anomalies, with a review of the literature.