Study objective: besides iron deficiency and alpha thalassemia, congenital microcytic hypochromic anemia is rare. We present an unusual case in an infant with mild facial dysmorphy.

Methods, case: laboratory tests were performed at HUG with standard methods. Born at term the female infant demonstrates a generalized hypotonia with swallowing deficiency severe enough to require forced enteral feedings until 4 months of age. Facial peculiarities include a bulbous nose, large ear pinnae, a bifid uvula. Neuro-intellectual development is subnormal at 21 months, with a progressive growth impairment. No family history of anemia, retardation or dysmorphism.

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