Stromme syndrome presenting with classic microcephaly and apple-peel intestinal atresia in a neonate: a genetically confirmed case report. [PDF]
Matern Health Neonatol PerinatolNawlakhe K +3 more
europepmc +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, Volume 110, Issue 6, Page 736-741, December 2026.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Co-Expression Network Analyses Reveal Long Non-Coding RNA Programs Associated with Trophoblast Development and Response to Zika Virus Infection in Twins Discordant for Congenital Zika Syndrome. [PDF]
Int J Mol SciSouza-Lopes T +9 more
europepmc +1 more source
Case Report: Congenital simple hepatic cyst with late-onset fetal growth restriction and an unexpected neonatal phenotype. [PDF]
Front Med (Lausanne)Angulo Seijas CM +6 more
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant. [PDF]
Am J Case RepAlanazi KA, Alosaimi SM, Alzuabi A.
europepmc +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Cockayne Syndrome Phenotype in a Sudanese Child With a Homozygous ERCC8 Splice-Site Variant of Uncertain Significance: A Case Report. [PDF]
CureusRagab F, Alhag A.
europepmc +1 more source
Ultrasound criteria for in utero diagnosis of microcephaly.
, 1980 Microcephaly (small head) is clinically important only if there is concomitant micrencephaly (small brain). Extensive studies on patients in mental institutions have shown that there is close correlation among microcephaly, micrencephaly, and mental ...
Cole-Beuglet, C +5 more
core
Birth Defects Research, Volume 118, Issue 11, November 2026.ABSTRACT Objectives Explore the relationship between maternal SARS‐CoV‐2 infection and congenital anomalies in Wales. Study Design Mixed observational epidemiological cross‐sectional and cohort. Methods Congenital anomaly prevalence data were provided by the Congenital Anomaly Register and Information Service. Two comparisons were made using these data:
Samantha Rose Fisher +4 more
wiley +1 more source