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3 results on '"Claire Brayer"'

1. Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

Author

Claire Brayer, Jean-Luc Alessandri, Duksha Ramful, Jean-Pierre Rivière, Marie-Claire Gubler, François Cartault, and Fabrice Cuillier

Subjects
Adult, Male, Fatal outcome, DNA Mutational Analysis, Kinesins, Pathology and Forensic Medicine, Fatal Outcome, Pregnancy, Humans, Medicine, Cilia, Femur, Genetics (clinical), business.industry, Siblings, General Medicine, Anatomy, Kidney Diseases, Cystic, Situs Inversus, medicine.disease, Renal cystic dysplasia, Radiography, Ciliopathy, Situs inversus, Pediatrics, Perinatology and Child Health, Female, Bile Ducts, Bone Diseases, business, Reunion
Published
2009

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

Author

Céline Laurain, Fabrice Cuillier, Duksha Ramful, Laure Jacquemot-Dekkak, Sylvain Samperiz, Marie Kieffer-Traversier, Valérie Malan, Claire Brayer, Jean-Luc Alessandri, Maeva Grondard, Florence Pierre, Isabelle Tiran-Rajaofera, Service de Réanimation Néonatale et Pédiatrique, CHD Félix Guyon, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), and Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Male, Pediatrics, medicine.medical_specialty, Polyhydramnios, Hernia, Hearing Loss, Sensorineural, Rudiger Syndrome, [SDV]Life Sciences [q-bio], Limb Deformities, Congenital, Nails, Malformed, Sensorineural, Craniofacial Abnormalities, Congenital, Fatal Outcome, Fryns syndrome, DOOR syndrome, Indian Ocean Islands, Intellectual Disability, Genetics, medicine, Humans, Diaphragmatic hernia, Hearing Loss, Genetics (clinical), Hernias, Hernia, Diaphragmatic, Comparative Genomic Hybridization, [ SDV ] Life Sciences [q-bio], business.industry, Congenital diaphragmatic hernia, Facies, Infant, Malformed, Microdeletion syndrome, Hand Deformities, medicine.disease, Hypoplasia, Limb Deformities, Phenotype, Nails, Female, Hernias, Diaphragmatic, Congenital, business, Hand Deformities, Congenital, Diaphragmatic
Abstract

International audience; 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.

Published
2014

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