title: Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?
abstract: 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.
authors.affiliation: Department of Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil.
authors.forename: Carolina M
authors.initials: CM
authors.lastname: Valdez
authors.forename: Stephan P L
authors.initials: SP
authors.lastname: Altmayer
authors.forename: McArthur A
authors.initials: MA
authors.lastname: Barrow
authors.forename: Jorge A B
authors.initials: JA
authors.lastname: Telles
authors.forename: Rosilene da S
authors.initials: Rda S
authors.lastname: Betat
authors.forename: Paulo R G
authors.initials: PR
authors.lastname: Zen
authors.forename: Rafael F M
authors.initials: RF
authors.lastname: Rosa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D003937:Diagnosis, Differential; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D010641:Phenotype; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities; D050497:Stillbirth; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities; D016216:Ultrasonography, Prenatal
keywords: DK-phocomelia; VACTERL association; encephalocele; new syndrome; prenatal diagnosis; radial defects