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Anatomy · Embryology: caudal regression
Sample itemA newborn of a mother with poorly controlled pregestational diabetes has sacral agenesis, hypoplastic lower limbs and absent lower lumbosacral vertebrae. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Caudal regression syndrome
Maternal diabetes is a recognised cause of caudal regression, in which caudal mesoderm fails to develop. The result is sacral and lumbar vertebral agenesis with lower limb hypoplasia and neurogenic bladder.
Option by option
A. Caudal regression syndrome (correct)
Correct. Absent sacral and lumbar vertebrae with small legs in a diabetic pregnancy defines this syndrome.
B. Sacrococcygeal teratoma
A sacrococcygeal teratoma is a tumour mass arising from remnants of the primitive streak.
C. Prune belly syndrome
Prune belly syndrome shows abdominal wall muscle deficiency with undescended testes and urinary tract dilatation.
D. Spina bifida occulta
Spina bifida occulta is a vertebral arch defect without absent vertebrae or limb hypoplasia.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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