Cerebro-Oculo-Facio-Skeletal (COFS) syndrome is a rare genetic disorder affecting 1 in 1,000,000 born fetuses. Its mode of inheritance is autosomal recessive (AR). COFS syndrome affects various systems within the body, and the life span of children born with the disease is between 3-5 years. Respiratory infections and feeding difficulties are the main causes of the increased morbidity and mortality in these patients. It is important to highlight this syndrome as it may present similarly to infectious fetopathies (cytomegalovirus, rubella, and toxoplasmosis), trisomy 13 and 18.
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Mefarreh et al. (2024) studied this question.
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