{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T23:09:57Z","timestamp":1725318597348},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations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 or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson\u2013Golabi\u2013Behmel, and conditions with hypoplasia\/absence of the distal phalanges such as DOOR syndrome, Schinzel\u2013Giedion syndrome, and Rudiger syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36323","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:38:55Z","timestamp":1387485535000},"page":"648-654","source":"Crossref","is-referenced-by-count":4,"title":["Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns\u2010like syndrome? 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