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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.
AuthorsCarolina M Valdez, Stephan P L Altmayer, McArthur A Barrow, Jorge A B Telles, Rosilene da S Betat, Paulo R G Zen, Rafael F M Rosa
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 5 Pg. 1085-91 (May 2014) ISSN: 1552-4833 [Electronic] United States
PMID24648351 (Publication Type: Case Reports, Journal Article)
Copyright© 2014 Wiley Periodicals, Inc.
Topics
  • Abnormalities, Multiple (diagnosis)
  • Adult
  • Anal Canal (abnormalities)
  • Diagnosis, Differential
  • Esophagus (abnormalities)
  • Female
  • Heart Defects, Congenital (diagnosis)
  • Humans
  • Infant, Newborn
  • Kidney (abnormalities)
  • Limb Deformities, Congenital (diagnosis)
  • Phenotype
  • Pregnancy
  • Spine (abnormalities)
  • Stillbirth
  • Syndrome
  • Trachea (abnormalities)
  • Ultrasonography, Prenatal

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