Sacral agenesis without maternal diabetes: a case report.

Area of Science:

• Medical Genetics
• Pediatric Orthopedics
• Congenital Abnormalities

Background:

• Sacral agenesis is a rare congenital condition involving sacrococcygeal bone agenesis.
• It frequently presents with spinal cord, genitourinary, bowel, and lower extremity anomalies.
• Fetal ultrasound enables prenatal diagnosis.

Purpose of the Study:

• To present a case of sacral agenesis type III with associated anomalies.
• To discuss the clinical management and prevention strategies for sacral agenesis.

Main Methods:

• Case report of a 1-year-old girl with sacral agenesis type III.
• Review of clinical presentation, diagnostic findings, and management approaches.
• Discussion of genetic counseling and preventative measures.

Main Results:

• The case involved a 1-year-old girl with sacral agenesis type III, bilateral congenital talipes equinovarus, and spina bifida.
• Patients with milder forms may lead normal lives, but comorbidities cause significant morbidity.
• Treatment is primarily supportive, requiring multidisciplinary care.

Conclusions:

• Genetic and prepregnancy counseling are vital for prevention.
• Early screening in high-risk pregnancies is recommended.
• Multidisciplinary supportive care is essential for managing associated complications.