Unusual cardiac malformations in splenogonadal fusion‐peromelia syndrome: Relationship to normal development

Abstract

A male newborn infant, studied at autopsy, showed continuous splenogonadal fusion and severe peromelia associated with an unusual, possibly unique, cardiac malformation complex. The cardiac lesions included multiple right ventricular diverticula, tricuspid atresia, mitral to semilunar valve discontinuity, and absent muscular outflow tract septum. Tabulation of the time of appearance of relevant anatomic features in 351 normal human embryos of Carnegie stages 9 through 23 showed that the teratogenic influence in the present case probably occurred by stages 16-17. The nature and distribution of lesions observed suggest that proliferating undifferentiated mesenchyme was the target of the unknown injury.

Splenogonadal fusion: a rare cause of testicular enlargement

“…Continuous splenogonadal fusion carries a higher risk of associated abnormalities in comparison with the discontinuous type [17]. Loomis et al [18] studied 351 embryos and found that the limb buds, the mandible from Meckel's cartilage and the splenic bud in the dorsal mesogastrium develop at approximately the same time. An injury at this stage of development would explain the association of these anomalies with splenogonadal fusion.…”

Spleno-gonadal fusion: anatomic and angiographic study of a case

“…The commonest of these are malformations of the limbs : hemimelia, peromelia, amelia, phocomelia [5,9] and micrognathy [16]. Other malformations are more exceptional: cardiac anomalies [7] and microgastry [9]. Renal arteriography (phase of venous return).…”

Splenogonadal fusion: case presentation and literature review

“…Only 4 cases with the discontinuous type were found to have associated anomalies, one with peromelia and micrognathia and the rest with subclinical ventricular septal defects [8]. In a study performed on 351 embryos, Loomis et al [29] found that the limb buds, the mandible from Meckel's cartilage, and the splenic bud in the dorsal mesogastrium develop at nearly the same time and that any insult during this period may lead to such associated anomalies.…”