Results 121 to 130 of about 22,857 (208)

Spatiotemporal Analysis of the Population Risk of Congenital Microcephaly in Pernambuco State, Brazil. [PDF]

open access: yesInt J Environ Res Public Health, 2020
Alexander NDE   +6 more
europepmc   +1 more source

Essential embryology for the Canadian pathologists’ assistant

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci   +4 more
wiley   +1 more source

Congenital nephrotic syndrome with microcephaly: report of a case.

open access: yesJournal of the Formosan Medical Association = Taiwan yi zhi, 1995
Congenital nephrotic syndrome is an uncommon disease with variable etiology, course and prognosis; its association with microcephaly is even more unusual. A case is reported here of congenital nephrotic syndrome because of focal glomerulosclerosis in a three-month-old female infant with microcephaly since birth.
C H, Yu   +5 more
openaire   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal   +4 more
wiley   +1 more source

Neurological Findings in Children without Congenital Microcephaly Exposed to Zika Virus in Utero: A Case Series Study. [PDF]

open access: yesViruses, 2020
Abtibol-Bernardino MR   +15 more
europepmc   +1 more source

Severe Holoprosencephaly With Arhinencephaly in A Liveborn Neonate: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
Physical examination revealed a‐hypotelorism, b‐arhinia, and c‐cleft lip and palate. ABSTRACT Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from incomplete separation of the cerebral hemispheres. It has an estimated prevalence of 1 in 10,000 live births.
Sarah K. Kebbeh, Hamdi I. Nawfal
wiley   +1 more source

Situs Inversus Totalis and Severe Early‐Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous CFAP52 Mutation: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
Serial sagittal T1‐weighted MR images demonstrating persistent thinning of the corpus callosum. (A) Initial MRI at 19 months of age shows diffuse thinning of the corpus callosum involving the body and splenium. (B) Follow‐up MRI one year later demonstrates stable appearance without interval progression, consistent with corpus callosal hypoplasia ...
Anwar Abu Hetta   +4 more
wiley   +1 more source

Congenital disorders. Microcephalia [PDF]

open access: yesOrvosi Hetilap, 2011
József Gábor, Joó   +3 more
openaire   +2 more sources

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. [PDF]

open access: yesEur J Hum Genet, 2020
Scala M   +29 more
europepmc   +1 more source

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