Results 61 to 70 of about 10,616 (248)

Deformational Plagiocephaly: A Case Report [PDF]

, 2010
Plagiocefalija je izraz kojim se obično opisuju kongenitalne asimetrije čela. Frontalnu plagiocefaliju ima oko pet posto pacijenata, uglavnom muške djece s predominacijom desnostranih jednostranih slučajeva.
Alessandro Leite CAVALCANTI, Ana Flávia GRANVILLE-GARCIA, Dmitry Jose de SANTANA SARMENTO, Luiz Guedes de CARVALHO NETO, Wellington Torres de ANDRADE   +4 more
core   +1 more source

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

Impact of the lateral skeletal stability following bilateral sagittal split ramus osteotomy for mandibular asymmetry

JPRAS Open, 2023
Summary: This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using posteroanterior cephalogram analysis and three-dimensional computed ...
S. Hasegawa, J. Sasaki, H. Nakao, M. Tomimatsu, S. Yamamoto, S. Watanabe, S. Miyabe, H. Miyachi, M. Goto   +8 more
doaj   +1 more source

UCSQ Method Applied on 3D Photogrammetry: Non-Invasive Objective Differentiation Between Synostotic and Positional Plagiocephaly

The Cleft Palate-Craniofacial Journal, 2022
Objective Objective differentiation between unilateral coronal synostosis (UCS) and positional posterior plagiocephaly (PPP) based on 3D photogrammetry according to Utrecht Cranial Shape Quantificator (UCSQ). Design Retrospective study.
S. Kronig, Otto D. M. Kronig, H. Vrooman, L. V. Van Adrichem   +3 more
semanticscholar   +1 more source

Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Saul Wilson syndrome is an extremely rare genetic disorder caused by heterozygous de novo mutations in the COG4 gene. We report the first case from Saudi Arabia with previously unreported facial dysmorphic features, expanding the known phenotypic spectrum and emphasizing the importance of recognizing phenotypic variability in rare disorders.
Saad A. Bin Owaimer, Fatimah H. Abusrair, May R. Mutlaq, Eissa A. Faqeih, Leen Abu‐Safieh   +4 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  

Diagnosis and treatment of positional plagiocephaly

Archives of Craniofacial Surgery, 2020
Positional plagiocephaly is increasing in infants. Positional plagiocephaly is an asymmetric deformation of skull due to various reasons; first birth, assisted labor, multiple pregnancy, prematurity, congenital muscular torticollis and position of head ...
Bok Ki Jung, I. Yun
semanticscholar   +1 more source

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

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  

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source