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A 10 year-old female patient presented with keratosis pilaris and characteristic facial anomalies. The prenatal history did not indicate any particular risk factors, the patient being born by normal delivery, without incidents and presenting with a good physical condition at the moment of birth (APGAR scores 9 and 10).\nPhysical examination showed signs of hypertelorism, down-slanting palpebral fissures, low set posteriorly rotated ears, palpebral ptosis, short neck, micrognathism and short stature ( and ). The mother reported some degree of learning disability and the need for special educational support in school.\nThe echocardiography demonstrated dilatation of the pulmonary artery and mitral regurgitation (although the patient did not have clinical symptoms). The jaw/ skull panoramic radiograph presented with bad dental occlusion.\nThe karyotype was 46 XX.