Alessandri J.-L.,Service Reanimation Neonatale |
Cuillier F.,Service de gynecologie obstetrique |
Malan V.,University of Paris Descartes |
Brayer C.,Service Reanimation Neonatale |
And 8 more authors.
American Journal of Medical Genetics, Part A | Year: 2014
We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations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. © 2013 Wiley Periodicals, Inc.
Boudon E.,Service Reanimation Neonatale |
Levy Y.,Service Reanimation Neonatale |
Abossolo T.,Service Reanimation Neonatale |
Cartault F.,Service de Genetique |
And 5 more authors.
European Journal of Medical Genetics | Year: 2015
Fetal edema can present as limited subcutaneous edema, fluid accumulation in body cavities or hydrops fetalis. Hydrops fetalis is the end stage of a variety of fetal/maternal disorders and nonimmune etiology represents more than 3/4 of cases. Lymphatic dysplasia may account for a subset of patients with nonimmune and "idiopathic" hydrops fetalis, fetal chylous ascites or chylothorax. We present two unrelated patients with antenatal features of hereditary lymphedema syndrome, in whom Milroy disease was diagnosed after birth. At least, 20 genes have been identified to cause primary lymphedema, with sometimes antenatal features. Hereditary lymphedema syndrome should be considered in cases of nonimmune hydrops fetalis/fetal edema after ruling out the more common etiologies. © 2015 Elsevier Masson SAS.