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.
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Authors | Carolina 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 |
Journal | American 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 |
PMID | 24648351
(Publication Type: Case Reports, Journal Article)
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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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