Results 71 to 80 of about 8,265 (200)

Screening for Torticollis and Plagiocephaly: The Role of the Pediatrician [PDF]

, 2014
The purpose of this study was to examine the effects of providing a standardized screening examination to a group of attending and resident physicians on the rate of torticollis and plagiocephaly diagnoses, the age at time of diagnosis, and the attitudes
Hwang, Lisa Ann Change-Yee
core  

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +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

Helmet Treatment of Infants With Deformational Brachycephaly

Global Pediatric Health, 2018
Deformation of the cranium in infancy represents a spectrum of deformity, ranging from severe asymmetric yet proportional distortion of the skull in plagiocephaly, to nearly symmetric yet disproportional distortion in brachycephaly.
Kevin M. Kelly PhD, Edward F. Joganic MD, FACS, Stephen P. Beals MD, FACS, FAAP, Jeff A. Riggs MA, Mary Kay McGuire OTR/L, Timothy R. Littlefield MS   +5 more
doaj   +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

Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures.

Frontiers in Dentistry, 2013
Plagiocephaly (oblique skull) is premature fusion of one of the coronal sutures. Frontal plagiocephaly is a rare congenital deformity in the skull that is the most complicated form of craniosynostosis to treat. Examination of all sutures is necessary for
Mansour Khorasani, Mohsen Hasani Barzi, Bahman Derakhshan   +2 more
doaj  

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

Tratamento de plagiocefalia e braquicefalia posicionais com órtese craniana: estudo de caso

Einstein (São Paulo)
O número de deformidades cranianas tem aumentado desde que tiveram início os esforços internacionais dos pediatras, com a recomendação de se colocar os filhos para dormirem na posição supina, como estratégia para reduzir a morte súbita do recém-nascido ...
Gerd Schreen, Carolina Gomes Matarazzo
doaj   +1 more source

The fate of facial asymmetry after surgery for "muscular torticollis" in early childhood

Journal of Indian Association of Pediatric Surgeons, 2016
Aims and Objectives: To study wheather the facial features return to normal after surgery for muscular torticollis done in early childhood. Materials and Methods: This is a long-term study of the fate of facial asymmetry in four children who have ...
Dinesh Kittur
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