title: 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abstract: We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations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.
authors.affiliation: Service Réanimation Néonatale, Pole Femme-Mère-Enfant, CH Félix Guyon, CHU de La Réunion, Saint-Denis, La Réunion, France.
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Alessandri
authors.forename: Fabrice
authors.initials: F
authors.lastname: Cuillier
authors.forename: Valerie
authors.initials: V
authors.lastname: Malan
authors.forename: Claire
authors.initials: C
authors.lastname: Brayer
authors.forename: Maeva
authors.initials: M
authors.lastname: Grondard
authors.forename: Laure
authors.initials: L
authors.lastname: Jacquemot-Dekkak
authors.forename: Marie
authors.initials: M
authors.lastname: Kieffer-Traversier
authors.forename: Florence
authors.initials: F
authors.lastname: Pierre
authors.forename: Céline
authors.initials: C
authors.lastname: Laurain
authors.forename: Sylvain
authors.initials: S
authors.lastname: Samperiz
authors.forename: Isabelle
authors.initials: I
authors.lastname: Tiran-Rajaofera
authors.forename: Duksha
authors.initials: D
authors.lastname: Ramful
mesh_terms: D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000175:diagnosis / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007195:Indian Ocean Islands; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
keywords: DOOR syndrome; Fryns syndrome; brachytelephalangy; onychodystrophy