Results 61 to 70 of about 7,645 (206)

Paleopathological Analysis of Craniosynostosis (CS): Two Cases of Plagiocephaly from the Archaeological Site of Kayalıpınar, Sivas, Turkey

Anadolu Araştırmaları
This article describes two individuals diagnosed with craniosynostosis. The archaeological human remains were uncovered from Kayalıpınar excavations in Sivas's province in Turkey. The skeletons described here belong to the Byzantine period.
İbrahim Sarı, Sercan Acar, Ayşen Açıkkol   +2 more
doaj   +1 more source

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 more
wiley   +1 more source

Cranioplasty with Methylmethacrylate in Plagiocephaly [PDF]

Archives of Craniofacial Surgery, 2016
Copyright © 2016 The Korean Cleft Palate-Craniofacial Association This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work ...
Hwang, So-Min, Chu, Sung-Chul, Kim, Hyung-Do, Hwang, Min-Kyu, Kim, Min-Wook, Lee, Jong-Seo   +5 more
openaire   +2 more sources

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Visual Field Defects in Deformational Posterior Plagiocephaly

, 2005
Purpose: We sought to determine whether visual field abnormalities occur in infants with deformational posterior plagiocephaly and to assess whether there is a relationship between the severity and laterality of visual field abnormalities with the ...
Aaron C. Fortney, Sayeda A. Nazir, Cannon, Sterling L, R. Michael Siatkowski, Feuer, William, Fortney, Aaron C, William Feuer, Siatkowski, R. Michael, Francel, Paul, Sterling L. Cannon, Ahmad, Warda, Nazir, Sayeda A, Warda Ahmad, Jayesh Panchal, Panchal, Jayesh, Paul Francel   +15 more
core   +1 more source

Comorbidities of deformational plagiocephaly in infancy: A scoping review protocol

, 2021
This is the registration for a scoping review regarding comorbidities of deformational plagiocephaly in infancy.
Mijna Hadders Algra, Lia Charalambous, Edna Yamasaki, Sofia Lampropoulou   +3 more
core   +1 more source

Applicative Factors of Helmet Molding Therapy in Late-diagnosed Positional Plagiocephaly [PDF]

, 2020
Background Although the benefits of helmet therapy for positional plagiocephaly are strongly correlated with age, the effective period remains controversial. However, most physicians agree that effective results can be obtained in patients within the age
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core   +1 more source

Interrater and Intrarater Reliability of Cranial Anthropometric Measurements in Infants with Positional Plagiocephaly

Children, 2020
(1) Background: anthropometric measurements with calipers are used to objectify cranial asymmetry in positional plagiocephaly but there is controversy regarding the reliability of different methodologies. Purpose: to analyze the interrater and intrarater
Iñaki Pastor-Pons, María Orosia Lucha-López, Marta Barrau-Lalmolda, Iñaki Rodes-Pastor, Ángel Luis Rodríguez-Fernández, César Hidalgo-García, Jose Miguel Tricás-Moreno   +6 more
doaj   +1 more source

Abnormal Head Shapes: Best Treatment Options for Plagiocephaly/Brachycephaly

, 2022
Objective: The incidence of positional plagiocephaly and brachycephaly has increased by 600% in the last thirty years, in large part due to the “Back to Sleep” campaign.
Scheeler, Lauren N.
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