TL Wenger, AV Hing, KN Evans - 2019 - europepmc.org
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost …
A Etchegaray, S Juarez-Peñalva, F Petracchi… - Child's Nervous …, 2020 - Springer
Background Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex …
XZ Low, MC Lim, V Nga, G Sundar… - The British Journal of …, 2021 - academic.oup.com
For decades, CT has been the primary imaging modality for the diagnosis and surveillance of paediatric craniofacial disorders. However, the deleterious effects of ionising radiation in …
AP Tan - American Journal of Roentgenology, 2019 - Am Roentgen Ray Soc
OBJECTIVE. The purpose of this article is to describe my institution's experience using a black bone sequence (a 3D low flip angle gradient-echo MRI sequence) in children with …
Background: Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies …
J Chen, S Kanekar - Clinics in Perinatology, 2022 - perinatology.theclinics.com
Craniofacial malformation is one of the most commonly encountered birth defects in the prenatal and postnatal periods. Early diagnosis of these malformations has vital clinical …
NK Desai, SF Kralik, JC Edmond… - American Journal …, 2023 - Am Soc Neuroradiology
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual …
N Faraji, R Goli, R Atharifar… - Clinical Case …, 2024 - pmc.ncbi.nlm.nih.gov
Key Clinical Message This case details a term neonate with Apert syndrome, featuring webbed digits, FGFR2 mutations, skull bone fusion, a rostral nose, and cleft palate. The …
Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a …