Results 101 to 110 of about 30,665 (241)
Situs Inversus Totalis: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Xin Du +4 more
wiley +1 more source
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source
The Application of Late Amniocentesis: A Retrospective Study in a Tertiary Fetal Medicine Center in China [PDF]
, 2020 Yingting Li +10 more
openalex +1 more source
Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri +6 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT This case analysis examines the clinical data, molecular genetic testing results, and 20‐month clinical data of long‐acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported ...
Hui Nan, Pu Zhang, Jing Qian
wiley +1 more source
Molecular Genetics & Genomic MedicineBackground Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified.
Joie O. Olayiwola +18 more
doaj +1 more source
False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory
Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang +5 more
wiley +1 more source
Fetal Intracardiac Echogenic Focus In Pregnants Underwent Amniocentesis [PDF]
, 2011 Cüneyt Eftal Taner
openalex +1 more source