Results 41 to 50 of about 19,150 (213)

The Clinical Value of Prenatal Ultrasonography in the Differential Diagnosis of Fetal Suprarenal Space-Occupying Lesions

open access: yesInternational Journal of Women's Health, 2022
Wen-Hua Zeng, Xian-Jin Wang, Xin Zhou Department of Ultrasound, Jiangxi Maternal and Child Health Hospital, Nanchang, People’s Republic of ChinaCorrespondence: Xin Zhou, Department of Ultrasound, Jiangxi Maternal and child Health Hospital, Nanchang ...
Zeng WH, Wang XJ, Zhou X
doaj  

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

open access: yesFrontiers in Genetics, 2022
Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR variants, which manifests only in females and presumed leading to male lethality.
Jianlong Zhuang   +9 more
doaj   +1 more source

A Tailgut Cyst—Cystic Mass Diagnosed by Prenatal Ultrasonography [PDF]

open access: yes, 2013
Tailgut cysts are congenital lesions found in the presacral space. These have been mainly identified in adults and are rare in children, especially neonates.
Ki Yeong Chung   +7 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

open access: yesBMC Pediatrics, 2023
Objective This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. Methods In this retrospective study, the various genetic
Min Li   +5 more
doaj   +1 more source

Acurácia da ultra-sonografia pré-natal para detecção de anomalias congênitas maiores / [PDF]

open access: yes, 1999
Dissertação (Mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.O objetivo do estudo foi avaliar a acurácia do ultra-som pré-natal para detecção de anomalias congênitas maiores.
Gonçalves, Luís Flávio de Andrade
core  

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

open access: yesAdvanced Healthcare Materials, EarlyView.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei   +9 more
wiley   +1 more source

Complete involution of prenatally-diagnosed fetal scalp hemangioma

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Scalp hemangioma is a rare benign fetal tumor. Here, we describe the detailed imaging features and natural course of a fetal scalp hemangioma until 1 year of age. Case report: We encountered a case of scalp hemangioma at 23 weeks’ gestation by
Eun Ju Jo   +5 more
doaj   +1 more source

Dandy-Walker Variant : Prenatal Diagnosis by Ultrasonography [PDF]

open access: yesMedical Journal Armed Forces India, 2004
The Dandy-Walker complex is a rare congenital intracranial malformation that comprises a spectrum of abnormalities of the posterior fossa which are classified as (a) Dandy-Walker malformation (cystic dilatation of the 4th ventricle, complete or partial agenesis of the cerebellar vermis and an enlarged posterior fossa) (b) Dandy-Walker variant (cystic ...
A, Alam, B N, Chander, M, Bhatia
openaire   +2 more sources

Fetal lung lesions diagnosis: the crucial role of ultrasonography [PDF]

open access: yes, 2009
Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving.
Maiello, Monica   +7 more
core  

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