Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois +5 more
wiley +1 more source
Anomalous origin of right pulmonary artery from ascending aorta (AORPA): An uncommon aortopulmonary vascular anomaly. [PDF]
Kaur G +4 more
europepmc +1 more source
Successful Sirolimus Treatment for Recurrent Pericardial Effusion in a Large Cervicomediastinal Provisionally Unclassified Vascular Anomaly: A Case Report. [PDF]
Moreno-Alfonso JC +6 more
europepmc +1 more source
Translucent Papules on a Mastectomy Scar
JEADV Clinical Practice, EarlyView.
Hind Ouerghi +5 more
wiley +1 more source
A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Louise Wilson +2 more
wiley +1 more source
Persistent primitive hypoglossal artery: a classification-based approach to understanding and managing a rare vascular anomaly. [PDF]
Elsayed NA, Ali AA.
europepmc +1 more source
Robotic distal gastrectomy for gastric cancer in a patient with situs inversus totalis and a vascular anomaly. [PDF]
Sagawa H +11 more
europepmc +1 more source
Does Early Laser Treatment of Capillary Malformations Lead to More Favorable Outcomes?
The Laryngoscope, EarlyView.
Larkin Harris, Reema Padia
wiley +1 more source
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source
Differentiating fibroadipose vascular anomaly from suspected venous malformation with core needle biopsy: A case series. [PDF]
Badrov P +3 more
europepmc +1 more source

