Part 2- Second Trimester: Cephalic Pole Malformations

Hydrocephaly or ventriculomegaly is caused by an abnormal volume increase of the brain’s lateral ventricles. Acrania, exencephalia and anencephalia start from a single process as a consequence of an early closure defect of the anterior neuropore. Encephaloceles are extremely grave bone defects, almost always of the frontal or occipital bones, often associated with chromosomopathies. Ciclopia and proboscis, also called “polyfemus”, always letal, are fetuses presenting a frontonasal malformation showing one single eye with or without a dermo-cartilaginous appendix above the eye anlage, Craniosynostosis is defined as the premature closure of the calvarian sutures and includes the following anomalies or syndromes: Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss and Antley Bixler. Ear malformations can arise from embriologic migration or rotation defects and are often associated with other embriopathies, Charge association, Vacterls syndrome, or chromosomal defects such as trisomies 13-15, 18, 21 and 22. Orofacial teratomas are extremely rare and occur at the base of the cranium in the roof of the hard palate or on the mandible. Cleft lipe and cleft palate are generally associated with other major or minor malformations especially from de CNS and with chromosomopathies. Retrognathia is a condition of facial disharmony whether Micrognathia is an abnormal smallness of the jaws frequently associated with chromosomopathies and genetic syndromes. Dandy-Walker is characterized by the presence of a cyst in the posterior fossa that communicates with the fourth ventricle showing a total or partial defect of the cerebellar vermis. The aneurysm of the vein of Galen refers to different midbrain arteriovenous fistula malformations associated with aneurysm dilatation of the veins. 4D Angiodoppler seems to be very useful for the definitive diagnosis. Congenital goitrus hypothyroidism is very rare but potentially dangerous due to its lifelong consequences.