Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age.
Case Presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis.
Asian Pac J Allergy Immunol
December 2024
Background: Local anesthetics (LA) are widely used in medicine and are generally well tolerated. Although most adverse reactions are nonallergic, LA are a frequent reason for allergy consultation.
Objective: We want to expand the differential diagnosis of adverse reactions to LA by presenting rare diagnoses.
Eur Heart J Qual Care Clin Outcomes
February 2023
Gynecol Obstet Fertil
December 2012
Objectives: To evaluate if internal version with ruptured membranes is a risk factor of cesarean section for the second twin.
Patients And Methods: Two hundred and fifty-nine twins vaginal deliveries after 33 weeks of gestation from 1997 to 2009 in a level 3 maternity. A retrospective case-control study comparing two groups: cases of cesarean section on second twin and five twins vaginal deliveries following the case.
J Gynecol Obstet Biol Reprod (Paris)
February 2012
Objective: To assess risk factors for anal sphincter injury during operative vaginal delivery using spatulas.
Patients And Methods: A monocentric retrospective study of all assisted vaginal deliveries using Thierry and Teissier's spatulas between January 1st, 2008 and December 31st, 2009 in a teaching level III maternity. We studied risk factors such as primiparity, gestational age, maternal age, previous perineal laceration, level and type of presentation, type of expulsion, unsuccessful extraction and successive use of tools, episiotomy, type of anaesthesia and birth weight.