Results 81 to 90 of about 54,673 (271)

Multi-Ligament Reconstruction in an Adolescent Female Affected by Congenital Femoral Deficiency and Complete Anterior and Posterior Cruciate Ligament agenesis: A Case Report

Clinics and Practice
Purpose: Multi-ligament reconstruction in adolescent patients affected by congenital femoral deficiency is an extremely rare and delicate surgical procedure.
Simone Giusti, Maria Beatrice Bocchi, Edoardo De Fenu, Osvaldo Palmacci, Ezio Adriani   +4 more
doaj   +1 more source

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

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Tibial Agenesis-Eltrodactyly Syndrome Associated with Novel Cardiovascular and Bronchopulmonary Malformations

, 2008
We report a 9-month-old female infant presenting, on the 15 th day of life, left tibial agenesis with ectrodactyly, right talipes equinovarus, syndactyly of the second and the third toes of the right foot, an incomplete split right foot , left fibular ...
李孟倫;陳明, LEE, MENG-LUEN;CHEN, MING   +1 more
core  

Dorsolumbosacral agenesis

, 2001
Caudal regression is a rare congenital spinal anomaly characterized by partial or total agenesis of the sacral and/or lumbar spine. Sacral and/or lumbosacral agenesis has been well described.
Mihmanli, I, Kantarci, Fatih, Kanberoglu, K, Kurugoglu, Sebuh   +3 more
core   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 more
wiley   +1 more source

Sustained seizure freedom with fenfluramine for refractory epilepsy due to 7q32‐q34 deletion syndrome

Epileptic Disorders, EarlyView.
Divya Veerapaneni, Abdulrahman Bukhari, Irfan S. Sheikh   +2 more
wiley   +1 more source

Case Report: Congenital gallbladder agenesis [PDF]

The congenital gallbladder agenesis presents a diagnostic challenge due to its atypical clinical features, often leading to misdiagnosis or delayed diagnosis and ultimately unnecessary surgeries. The role of MRI in this condition cannot be overstated. We
Xuefeng Bai, Rui Zhang, Bo Gao, Bai, Xuefeng, Gao, Bo, Zhang, Rui   +5 more
core   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 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