Results 41 to 50 of about 66,521 (260)
Anaesthesia, 1994 Summary Agenesis of the trachea is a rare anomaly. The main signs are respiratory distress and cyanosis, inability to vocalise and impossible tracheal intubation. In most cases concomitant congenital anomalies of the heart, digestive tract or genitourinary tract are present.
H J, Manschot +2 more
openaire +2 more sources
A rare case of agenesis of dorsal pancreas
National Journal of Clinical Anatomy, 2012 Agenesis of dorsal bud of the pancreas is an extremely rare congenital anomaly which results in absence of neck, body and tail of the adult pancreas. It may be associated with number of clinical features like diabetes mellitus, abdominal pain and chronic
Devi D Jansirani +2 more
doaj +1 more source
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]
, 2019 Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal +5 more
core +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
Indian Journal of Radiology and ImagingCongenital variants of the pancreas are being increasingly detected with the widespread use of modern imaging techniques. The underlying embryologic aberration predicts the final appearance of pancreatic development.
Shaurya Sharma +4 more
doaj +1 more source
An unwonted case report of nonsyndromic oligodontia
Indian Journal of Dental Sciences, 2020 Dental agenesis is a common developmental anomaly that affects approximately 20% of the population and results in a reduction of the number of teeth present in the oral cavity.
Sumita Jain +2 more
doaj +1 more source
Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]
, 2008 BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A. +2 more
core +1 more source
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
A possible role of GDNF expression by which cabergoline use affects corpus callosum
Journal of Pediatric and Neonatal Individualized Medicine, 2018 A variety of malformations have been associated with cabergoline use during gestation. Recently we had a preterm male infant referred to our Neonatal Intensive Care Unit diagnosed with corpus callosum agenesis confirmed by brain ultrasound and brain ...
Georgios Mitsiakos, Anastasia Gkampeta
doaj +1 more source
Rare non‐syndromic bilateral maxillary and mandibular permanent canine agenesis
Clinical Case Reports, 2022 Oligodontia or absence of teeth such as the Canines is rare and is often accompanied with several other missing teeth. This condition may also be accompanied with morphological and growth related changes in the teeth and the maxillofacial complex ...
Anand Marya +2 more
doaj +1 more source