Results 41 to 50 of about 17,066 (189)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
PLoS ONE, 2019 BackgroundPulmonary hypoplasia, characterized by incomplete alveolar development, remains a major cause of mortality and morbidity in congenital diaphragmatic hernia.
Tram Mai Nguyen +6 more
doaj +1 more source
Congenital diaphragmatic hernia: prevalence and management
مجلة كلية الطب, 2011 Background: The morbidity and mortality of congenital diaphragmatic hernia is related to the severity of lung hypoplasia ,pulmonary hypertension and associated anomalies.
Hasan K. Gatea +2 more
doaj +1 more source
Laparoscopic repair of recurrent traumatic diaphragmatic hernia
Journal of Minimal Access Surgery, 2020 Laparoscopic repair of recurrent diaphragmatic hernia is infrequently reported. We report successful laparoscopic management of such a case in a 23-year-old male who presented with recurrent vomiting and hiccoughs.
Devender Singh +2 more
doaj +1 more source
Non-traumatic left-sided diaphragmatic hernia causing volvulus in an adult
Radiology Case Reports, 2023 Diaphragmatic hernias can be classified into congenital and acquired types. Most cases of congenital diaphragmatic hernia present early in life with respiratory distress while acquired diaphragmatic hernia usually presents following a history of trauma ...
Ahmed T. Abdelhamid, MBChB
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Traumatic diaphragmatic hernia [PDF]
Indian Journal of Surgery, 2008 Abdominal trauma is frequently encountered, but traumatic injuries to the diaphragm are often missed.A retrospective review of all the case files of patients presenting with traumatic diaphragmatic injury was performed. These patients were analyzed for their presentation, injury, surgery performed and outcomeA total of 14 patients were thus identified (
Sanjiv, Bhatia +7 more
openaire +2 more sources
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective To assess long‐term safety of antiseizure medication (ASM) discontinuation after resolution of acute provoked neonatal seizures and prior to hospital discharge. Methods Prospective, observational, comparative effectiveness cohort study of neonates with acute provoked seizures born from July 2015 to March 2018, and followed until ...
Hannah C. Glass +16 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source