Article
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.
American journal of medical genetics. Part A - 1 Mar 2014
Alessandri Jean-Luc, Cuillier Fabrice, Malan Valerie, Brayer Claire, Grondard Maeva, Jacquemot-Dekkak Laure, Kieffer-Traversier Marie, Pierre Florence, Laurain Céline, Samperiz Sylvain, Tiran-Rajaofera Isabelle, Ramful Duksha
Abstract excerpt
We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal...
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