CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect.Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS:The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. RESUMO

The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo-auriculo-vertebral spectrum and Edwards syndrome (trisomy 18). DK-phocomelia is a rare syndrome characterized by both findings. However, Froster-Iskenius and Meinecke [1992, Clin Dysmorphol 1: 37-41] and Kunze et al. [1992, Eur J Pediatr 151: 467-468] reported patients presenting similar malformations. We proposed, through the description of an additional case, that these last patients present the same condition and thus represent a new syndrome. The fetus presented a cranial vault deformity associated with an exuberant herniation of brain content, compatible with occipital encephalocele. Other uncommon features were also identified: microtia of the left ear with atresia of the external auditory canal; radial defect with aplasia of left radius and thumb; findings suggestive of a congenital heart defect and esophageal atresia; hypoplastic lungs and adrenals; thoracolumbar scoliosis; atrophic right kidney; and single umbilical artery. Thus, based on our review, we believe that these patients represent a new condition characterized by encephalocele and radial defects associated with multiple malformations. We propose, that the name "Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies," as suggested by the London Medical Database, or even the name, "Froster-Iskenius and Meinecke syndrome" should be used to indicate these cases. © 2014 Wiley Periodicals, Inc.

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fetal left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fetal echocardiography showed only a dextroposed heart. Fetal magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fetal karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births. RESUMOCONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fetal. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fetal mostrou apenas coração desviado para a direita. A ressonân-cia magnética fetal revelou imagem compatível com hérnia diafragmática à esquerda, contendo estôma-go e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fetal mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 ...