Results 301 to 310 of about 87,727 (384)

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Jacobsen syndrome is a rare 11q deletion disorder with multisystem involvement. This case highlights a complex unbalanced 11;15 translocation, olfactory bulb agenesis, extensive white matter abnormalities, and severe endocrinopathies, emphasizing the need for comprehensive genetic and neuroimaging evaluations.
Sajjad Ghanim Al‐Badri, Aditya Duhan, Rania H. Al‐Taie, Muntadher Yousif Hasan Al Gehadi, Ibrahim Khalil   +4 more
wiley   +1 more source

Association between prenatal Zika virus exposure and neurodevelopmental outcomes in offspring: a protocol for a systematic review and meta-analysis of observational studies. [PDF]

BMJ Open
Nagata A, Swe TM, Iwabuchi T, Haque M, Razia S, Tsuchiya KJ, Senju A, Rahman MS.   +7 more
europepmc   +1 more source

Faculty Opinions recommendation of Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

, 2009
Joseph Higgins
openalex   +2 more sources

U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.
Shiqin Huang, Mei Li, Hai Yuan, Yunli Han, Xiaolan Chen, Yunxuan Su, Xing Li   +6 more
wiley   +1 more source

Case Report: a novel homozygous <i>ASNS</i> variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy. [PDF]

Front Neurosci
Cheng S, Zhang F, Wang Q, Zhang J, Lyu G, Li Y, Zhou X, Yuan H.   +7 more
europepmc   +1 more source

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

, 2010
Jeremy N. Pulvers, Jarosław Bryk, Jennifer L. Fish, Michaela Wilsch‐Bräuninger, Yoko Arai, Dora Schreier, Ronald Naumann, Jussi Helppi, Bianca Habermann, Johannes Vogt, Robert Nitsch, Attila Tóth, Wolfgang Enard, Svante Pääbo, Wieland Β. Huttner   +14 more
openalex   +1 more source

Pediatric Anesthetic Management of a Patient With Warburg Micro Syndrome, a Rare Autosomal Recessive Genetic Disorder

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Warburg micro syndrome is an extremely rare autosomal recessive genetic disorder with only 100 families documented worldwide. We present a safe and successful anesthetic management of a pediatric patient with Warburg micro syndrome utilizing total intravenous anesthesia (TIVA) and incisional Exparel.
Esha Thakkar, Michael McNally, Adrienne Hutton, Michael Holdeman, David G. Jackson   +4 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology. [PDF]

Clin Genet
Leduc F, Vanlerberghe C, Escande F, Brunelle P, Petit F, Dieux A.   +5 more
europepmc   +1 more source

A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Here, we report the case of a fetus affected by multiple congenital anomalies (MCA) syndrome detected during the second trimester through ultrasound scan, in which a de novo pathogenetic variant in the PUF60 gene (NM_078480.3:c.382_383del; p.Met128ValfsTer11) was identified by trio‐based exome sequencing.
Catia Mio, Maria Orsaria, Alessandra Franzoni, Elisa Bregant, Elena Betto, Jessica Zucco, Eliana Demori, Giuseppe Damante, Flavio Faletra   +8 more
wiley   +1 more source

Adverse fetal and perinatal outcomes associated with Zika virus infection during pregnancy: an individual participant data meta-analysis. [PDF]

EClinicalMedicine
Zika Virus Individual Participant Data Consortium.
europepmc   +1 more source