Results 71 to 80 of about 76,951 (280)

The association between Ponticulus Posticus and Dental Agenesis: a retrospective study [PDF]

, 2018
OBJECTIVE: Neural tube defects may increase the risk of an abnormal development of skull, vertebral column and teeth formation, including dental agenesis in non syndromic patients. The association between the presence of a congenital Dental Agenesis (DA)
Barbato, Ersilia, Galluccio, Gabriella, Leonardi, Rosa Maria, Putrino, Alessandra   +3 more
core   +1 more source

Ultrasonographic Diagnosis of Finger Flexor Tendon Hypoplasia in a Child with Phalangeal Agenesis

Diagnostics
Agenesis and hypoplasia affecting multiple flexor tendons within the same hand represent an exceedingly uncommon occurrence, with no previous studies addressing this condition.
Cheng-I Chen, Hong-Yi Lin, Wei-Ting Wu, Ke-Vin Chang, Levent Özçakar   +4 more
doaj   +1 more source

Agenesis of the piriformis muscle: A case report with review of literature

South African Journal of Radiology, 2020
Agenesis of the piriformis muscle is an extremely rare occurrence. Knowledge about this anatomic variant is important because of its close proximity with the sciatic nerve and sacral plexus.
Pankaj Nepal, Syed I. Alam, Sadia Sajid, Syeda S. Intakhab, Vijayanadh Ojili   +4 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., Li, T-C., Saravelos, S.H.   +2 more
core   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Right Lung Agenesis with Dextrocardia: A Case Mismanaged as Pneumonia

Journal of Medical Sciences and Health, 2017
Pulmonary agenesis is an extremely rare congenital anomaly with an incidence varying between 1/10,000 and 12,000 births. It is defined as complete absence of bronchus, parenchyma, and vessels which may vary in degrees of severity. A variety of congenital
Pradosh Kumar Sarangi, Sanket Kulkarni, Sasmita Parida, Basanta Manjari Swain, Jayashree Mohanty   +4 more
doaj  

Agenesia de artéria carótida interna

Jornal Vascular Brasileiro, 2018
Resumo A agenesia de carótida interna é uma anomalia rara. Na maioria dos casos, é assintomática devido às anastomoses que podem estar presentes, mas pode estar associada a complicações, principalmente quando evidenciada a presença de outras alterações ...
Adriano Carvalho Guimarães, Thaís Duarte Baião Pessoa, Ricardo Herkenhoff Moreira, Walter Junior Boim de Araujo   +3 more
doaj   +1 more source

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis [PDF]

, 2016
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing ...
Amadori, Francesca, Bardellini, Elena, Borsani, Giuseppe, De Petro, Giuseppina, Ferrari, Lia, Giacopuzzi, Edoardo, Majorana, Alessandra, Salvi, Alessandro   +7 more
core   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source