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Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands

Abstract : We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations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-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome.
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https://hal.univ-reunion.fr/hal-01274557
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Submitted on : Tuesday, February 16, 2016 - 8:40:35 AM
Last modification on : Friday, March 27, 2020 - 2:18:47 AM

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Jean-Luc Alessandri, Fabrice Cuillier, Valérie Malan, Claire Brayer, Maeva Grondard, et al.. 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, Wiley, 2014, 164A (3), pp.648--654. ⟨10.1002/ajmg.a.36323⟩. ⟨hal-01274557⟩

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