Acromelic Dysplasia

Acromelic osteodysplasias electively affect the epiphyses and metaphyses of the tubular bones of the hand and foot. These dysplasias are impossible to recognize by prenatal ultrasound. Sometimes the recognition of such pathologies can be obtained during a prenatal genetic investigation performed for another indication. In such cases, genetic counselling should be recommended. Indeed, in some of these conditions, such as acrodysostosis and tricho-rhino phalangeal type 2, there is also an associated mental retardation. It is therefore important to inform the pregnant woman of the criticalities that will become manifest after birth.