Abstract
Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as early amnion rupture sequence or ADAM (Amniotic Deformity, Adhesions, Mutilations) complex, characterized by asymmetrical congenital anomalies, including limb reduction and craniofacial defects, usually arising during the 2nd or 3rd trimester of gestation. The paper reports the case of a 4-month-old infant who was referred for genetic counselling in the suspicion of malformation syndrome with asymmetrical limb reduction defects. The present case underlines how a suggestive obstetric history, together with a detailed evaluation of the phenotype (exclusion of anomalies of other organs and systems), allows the correct diagnosis to be made and adequate genetic counselling to be provided. The latter must include the sensitive and relevant process of diagnosis communication (even more difficult in case of unexpected diagnosis at birth), in which clinicians should support and guide parents towards the path of care, providing clinical information both on recurrence risk and functional prognosis.
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