title: Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.
abstract: Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.
authors.affiliation: Department of Obstetrics & Gynecology, Guastalla General Hospital, AUSL Reggio Emilia, Guastalla, Italy. Tonni.Gabriele@ausl.re.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Giovanni
authors.initials: G
authors.lastname: Centini
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Bonasoni
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.forename: Pietro
authors.initials: P
authors.lastname: Cavalli
mesh_terms: D000015:Abnormalities, Multiple; D000025:Abortion, Eugenic; D000328:Adult; D000757:Anencephaly / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal / Q000379:methods*
chemical_list: D005492:Folic Acid