title: Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.
abstract: Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.
authors.affiliation: Department of Gynecology and Obstetrics, Federal University of Latin American Integration (UNILA), Foz do Iguacu, Brazil.
authors.forename: Gláucia Aparecida
authors.initials: GA
authors.lastname: Menezes
authors.affiliation: Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil.
authors.forename: Edward
authors.initials: E
authors.lastname: Araujo Júnior
authors.affiliation: Department of Arts and Design, Pontifícal Catholic University (PUC Rio), Rio de Janeiro, Brazil.
authors.forename: Jorge
authors.initials: J
authors.lastname: Lopes
authors.affiliation: Department of Arts and Design, Pontifícal Catholic University (PUC Rio), Rio de Janeiro, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Belmonte
authors.affiliation: Department of Obstetrics and Gynecology, Guastalla Civil Hospital, Reggio Emilia, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.affiliation: Radiology, Clincial Diagnostic Imaging (CDPI), Rio de Janeiro, Brazil.
authors.forename: Heron
authors.initials: H
authors.lastname: Werner
mesh_terms: D000328:Adult; D001934:Branchial Region / Q000002:abnormalities / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005360:Fibula / Q000002:abnormalities / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D021621:Imaging, Three-Dimensional / Q000379:methods; D018811:Maternal Exposure; D014663:Nasal Decongestants / Q000009:adverse effects*; D010109:Oxymetazoline / Q000009:adverse effects*; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000187:drug effects; D011262:Pregnancy Trimester, Second; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal / Q000379:methods*
chemical_list: D014663:Nasal Decongestants; D010109:Oxymetazoline
keywords: agnathia-otocephaly; limb deformity; maternal exposure to oxymetazoline; physical model; three-dimensional ultrasound