Results 41 to 50 of about 66,087 (258)
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
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
On the role of the corpus callosum in interhemispheric functional connectivity in humans [PDF]
, 2017 Resting state functional connectivity is defined in terms of temporal correlations between physiologic signals, most commonly studied using functional magnetic resonance imaging. Major features of functional connectivity correspond to structural (axonal)
Hacker, Carl D. +8 more
core +2 more sources
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
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source