Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?

Autor: Valdez CM; Department of Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil., Altmayer SP, Barrow MA, Telles JA, Betat Rda S, Zen PR, Rosa RF
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2014 May; Vol. 164A (5), pp. 1085-91. Date of Electronic Publication: 2014 Mar 19.
DOI: 10.1002/ajmg.a.36426
Abstrakt: 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.
(© 2014 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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