Results 41 to 50 of about 16,543 (245)
Absent ductus venosus: case series from two tertiary centres [PDF]
, 2018 INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops.
Berghella V +5 more
core +1 more source
Prenatal diagnosis of gastroschisis on ultrasonography
Apollo Medicine, 2020 Gastroschisis is an abdominal wall defect resulting from ischemia to blood vessels that supply the abdominal wall during the first trimester of pregnancy.
Reddy Ravikanth, Vaijnath P Khanapure
doaj +1 more source
Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
core +1 more source
Transient Antenatal Bartter’s Syndrome: A Case Report
Frontiers in Pediatrics, 2018 Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to
Michelle Meyer +2 more
doaj +1 more source
Diagnostics, 2022 Polyhydramnios is an obstetrical condition defined as a pathological increase in the amniotic fluid and is associated with a high risk of maternal-fetal complications.
Agnesa Preda +7 more
doaj +1 more source
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
BMC Pregnancy and Childbirth, 2022 Background In this prospective cohort study, the perinatal outcome in idiopathic polyhydramnios compared with normal pregnancies was examined. Methods This was a prospective cohort study of 180 singleton pregnancies who received care at the referral ...
Raziyeh Vanda +3 more
doaj +1 more source
Journal of Gandhara Medical and Dental Sciences, 2023 OBJECTIVES To determine the frequency of malpresentation in pregnant women with polyhydramnios. METHODOLOGY This Cross-Sectional Study was conducted at the Department of Obstetrics and Gynecology of Lady Reading Hospital, Peshawar, from March ...
Shomaila +5 more
doaj +1 more source
A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]
, 2012 Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Atlihan, F +6 more
core +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source