Results 291 to 300 of about 87,727 (384)

Late-onset hearing loss was not observed among preschool- aged children with prenatal Zika virus exposure: An analysis of the Microcephaly Epidemic Research Group Pediatric Cohort (2015-2019). [PDF]

PLoS Negl Trop Dis
Ramos DS, Ferreira Muniz L, de Carvalho Leal M, Miranda Filho DB, Ximenes RAA, Brickley E, de Araujo TVB, Martelli CMT, Caldas Neto SDS.   +8 more
europepmc   +1 more source

Early Postnatal Infection With Human Cytomegalovirus Has Long‐Term Consequences on Brain Structure of Former Preterm Born Children

Brain and Behavior, Volume 15, Issue 10, October 2025.
Cortical surface analyses of former preterm‐born children with (PT hCMV+) and without (PT hCMV−) early postnatal human Cytomegalovirus (hCMV) infection at ∼13 years of age. Note the strong effect of prematurity when compared to full‐term‐born children (FT, top), but the independent and even more widespread effect of HCMV infection (bottom).
Meike Müller, Karen Lidzba, Christian Gaser, Till‐Karsten Hauser, Rangmar Goelz, Klaus Hamprecht, Marko Wilke   +6 more
wiley   +1 more source

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review. [PDF]

BMC Pediatr
Wei J, Zhao G, Li L, Liu C, Li J.
europepmc   +1 more source

Using brain organoids to understand Zika virus-induced microcephaly

Development, 2017
Xuyu Qian, H. N. Nguyen, Fadi Jacob, Hongjun Song, G. Ming   +4 more
semanticscholar   +1 more source

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report a case of hereditary spastic paraplegia type 50, an extremely rare disease characterized by upper motor neuron dysfunction. This case underscores the importance of considering genetic etiologies in patients previously diagnosed with cerebral palsy, especially when clinical history, presentation, and imaging findings are inconsistent ...
Ana Teresa Guerra, André M. Travessa, José Paulo Monteiro   +2 more
wiley   +1 more source

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients. [PDF]

BMC Med Genomics
Yoo J, Park AY, Ko JM.
europepmc   +1 more source

COL4A1‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability.
Thkra Meshal, Amal M. Shawabka, Kareem lbraheem, Rosol Iwaiwi, Nissreen E. Thafer, Jinan H. Afana, Ahmad G. Hammouri, Osama Atawneh   +7 more
wiley   +1 more source

Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants. [PDF]

Orphanet J Rare Dis
Li SY, Wang YT, Liu T.
europepmc   +1 more source

Williams Syndrome Associated With Facial Port‐Wine Stain and Phacomatosis Pigmentovascularis: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Williams syndrome (WS) is a rare congenital multi‐systemic condition due to gene deletion. We present a rare case of co‐existence of WS, port wine stains, and phacomatosis pigmentovascularis. This case emphasizes the importance of recognizing the co‐occurrence of such conditions and WS for accurate diagnosis and management.
Bahareh Abtahi‐Naeini, Omid Yaghini, Zahra Razavi   +2 more
wiley   +1 more source

Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report. [PDF]

J Int Med Res
Chen J, Bi S, Wang J, Dai L.
europepmc   +1 more source