Results 51 to 60 of about 9,047 (211)

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

Anterior plagiocephaly with contralateral superior oblique overaction

Indian Journal of Ophthalmology, 2008
Anterior plagiocephaly is a craniofacial anomaly related to premature unilateral synostosis. We present three cases of anterior plagiocephaly with contralateral superior oblique dysfunction.
Jethani Jitendra, Dagar Abhishek, Vijayalakshmi P, Sundaresh K   +3 more
doaj  

Posterior positional plagiocephaly treated with cranial remodeling orthosis. [PDF]

, 2007
Since the recommendation that infants sleep in the supine position, there has been an increase in cases of posterior positional plagiocephaly.
Cavin, B., de Ribaupierre, S., Kalina, D., Leyvraz, P-, Rilliet, B., Vernet, O.   +5 more
core  

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

Effectiveness of Helmet therapy for infants with moderate to severe positional plagiocephaly [PDF]

Clinical and Experimental Pediatrics
Background The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea. Purpose This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods
Jeongho Kim, Jina Kim, Kyu Young Chae
doaj   +1 more source

A Rare Cause of Intrauterine Plagiocephaly within Twin Pregnancy: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2014
The word plagiocephaly is occurred from Greek for “slanted” (plagio) and “head” (kephale). Plagiocephaly describes a planar or multiplanar cranial asymmetry which can be occurred in prenatal or postnatal period.
Mustafa Ulubay, Fahri Burçin Fıratlıgil, İbrahim Alanbay, Uğur Keskin, Ulaş Fidan, Ali Ergün   +5 more
doaj  

Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly [PDF]

, 2018
Introduction: When a child walks in the clinic with a unilateral frontal flattening, it is usually associated in our minds with unilateral coronal synostosis.
Czorny, Alain, de Ribaupierre, Sandrine, Jacques, Bertrand, Pittet, Brigitte, Rilliet, Benedict   +4 more
core  

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, Volume 109, Issue 1, Page 167-175, January 2026.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

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

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