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General surgery

CHAPTER 16. CONGENITAL MALFORMATIONS

11 topics with brief reviews: definitions, key facts, and class questions.

This chapter is dedicated to congenital malformations—structural anomalies that develop intrauterine and often require surgical correction. Here you will find the surgical foundation necessary for understanding defect anatomy and selecting treatment tactics.

The section systematically covers anomalies across all major regions and systems. We will examine malformations of the skull, spinal cord and brain, maxillofacial region, and neck. Moving lower, we will cover chest and lung defects, as well as congenital heart defects. Special attention is paid to digestive system surgery, anterior abdominal wall defects, and anomalies of the urogenital system and extremities.

In seminars and exams, special emphasis is placed on life-threatening conditions. Instructors will certainly ask about hemodynamics in cyanotic and acyanotic congenital heart defects, the differential diagnosis of omphalocele and gastroschisis, as well as the timing and stages of surgical correction for cleft lip and palate. I recommend starting your preparation precisely with these clinical scenarios.

Section Topics

Frequently asked questions for this section

During which period of pregnancy is the fetus most vulnerable to the formation of malformations?

The most critical period is organogenesis (weeks 3 to 6), as well as the moment of zygote implantation (days 3–5).

Why is it acceptable to excise part of the brain tissue during the removal of an encephalocele?

Brain tissue herniated into the hernial sac has already undergone profound degeneration. Its resection does not affect central nervous system functions.

What fluid is contained within a spinal hernia in partial rachischisis?

The cavity of the hernial sac contains cerebrospinal fluid, as well as elements of the spinal cord and cauda equina.

Cleft lip impairs the suckling process, which is why the infant must be fed expressed breast milk.

Cleft lip impairs the suckling process, which is why the infant must be fed expressed breast milk.

Radiography of the cervical spine is necessary to rule out bone pathology (cervical spine developmental anomalies) which may be the primary cause of fixed head tilt.

Radiography of the cervical spine is necessary to rule out bone pathology (cervical spine developmental anomalies) which may be the primary cause of fixed head tilt.

What is the difference between thorax infundibuliformis and thorax carinatus?

In thorax infundibuliformis (funnel chest), the sternum and ribs are depressed inward, forming a "funnel." In thorax carinatus (pigeon chest), they protrude outward in the shape of a wedge.

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