Results 101 to 110 of about 22,740 (195)

Digital palatal anthropometry in children with and without congenital zika syndrome-associated microcephaly

Brazilian Dental Science
Objective: To digitally compare palatal linear and angular anthropometry in children with and without congenital zika syndromeassociated microcephaly.
Aliny Bisaia, Eloá Cristina Passucci Ambrosio, Kelly Maria Silva Moreira, Eduarda Cristina de Oliveira Benedito, Thais Marchini Oliveira, Maria Aparecida Andrade Moreira Machado   +5 more
doaj   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Visualization of ZPR1 protein variants. ABSTRACT We report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic craniofacial features.
Giavanna Verdi, Aleksandra Foksinska, Elizabeth L. Nichols, Erinn O. Schmit, Andrew Watson, Madeline Eckenrode, Nathaniel H. Robin   +6 more
wiley   +1 more source

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

BMC Medical Genomics
Background CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders, Andrew C. Edmondson, Albert C. Yan, Diva D. De Leon   +3 more
doaj   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

Associations of DNA Methylation Mortality Risk Markers with Congenital Microcephaly from Zika Virus: A Study of Brazilian Children Less than 4 Years of Age. [PDF]

J Trop Pediatr, 2021
Nwanaji-Enwerem JC, Laan LV, Avakame EF, Scott KA, Burris HH, Cardenas A.   +5 more
europepmc   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

CONGENITAL NEUROLOGICAL DISORDERS IN CHILDREN WITH MICROCEPHALY

Primary microcephaly ( PMCF) is a neurodevelopmental disorder characterized by a small brain size, primarily due to a decrease in the cerebral cortex, and varying degrees of mental retardation (Woods et al., 2005;Mahmood et al., 2011;Phan and Holland, 2021;Zaqout and Kaindl, 2021;Gupta, 2023) and several additional neurological problems such as ...
openaire   +2 more sources

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source