First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

INTRODUCTION AND

IMPORTANCE

Congenital anomalies remain a significant global health challenge, affecting 6 %-8 % of newborns worldwide and contributing to high rates of infant mortality and disability. This case report presents a unique constellation of congenital malformations in a six-year-old male born to consanguineous parents with a family history of metabolic disorders, including maternal diabetes and paternal smoking-both known risk factors for birth defects.

CASE PRESENTATION: The patient exhibited a complex phenotype including rib agenesis, hydrocephalus, sacral agenesis, atrial septal defect, and severe lower limb deformities characterized by complete tibial absence on the right and a 180-degree rotational malalignment of the left tibia and fibula. These features partially overlap with known syndromes such as VACTERL association and Gollop-Wolfgang complex, but the presence of hydrocephalus and certain skeletal abnormalities suggest a previously unreported syndrome.

DISCUSSION: A multidisciplinary surgical approach was employed, involving ventriculoperitoneal shunting for hydrocephalus, hernia repair, staged amputations on the right limb, and a novel rotationplasty procedure on the left limb to restore function and enable prosthetic fitting. Postoperative rehabilitation led to improved mobility, with the child achieving assisted ambulation.

CONCLUSION

This case underscores the importance of early diagnosis, individualized surgical planning, and comprehensive rehabilitation in managing complex congenital disorders. Furthermore, it highlights the need for expanded genetic and phenotypic research to classify novel syndromes and optimize therapeutic strategies, especially in populations with high consanguinity rates and environmental risk exposures.