Ruprecht Majewski-Bosma syndrome is an extremely rare dysmorphic syndrome results from severe hypoplasia of the nose and eyes occurring in association with palatal abnormalities. It is characterized by congenital complete nasal agenesis (Bilateral aplasia of the nose), microphthalmia including clinical anophthalmia, hypertelorism and other eye defects, high arched palate, and other palatal defects. Patients commonly needs few weeks to learn how to breathe through their mouth, and how to breathe and eat at the same time. Therefore, they usually need oral airway during the first few weeks or months of life. They cannot smell because they are lacking the internal parts of the smell (olfactory) system, but they may be able to detect very strong, irritating odors. Later, patients need plastic surgery to build an external nose. Small penis and undescended testes (cryptorchidism) have been attributed to defective hypothalamic production of gonadotropin-releasing hormone [1-4].
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