Results 61 to 70 of about 3,759 (221)

Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea

Case Reports in Otolaryngology, 2015
Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia.
Nobuto Onda, Shintaro Chiba, Hiroto Moriwaki, Rika Sawai, Akira Yoshigoe, Subaru Watanabe, Yuji Ando, Ryo Uchida, Takeshi Miyawaki, Kota Wada   +9 more
doaj   +1 more source

Spring-mediated skull expansion: overall effects in sutural and parasutural areas. An experimental study in rabbits Expansão craniana com molas: efeitos globais nas áreas suturais e parassuturais. Estudo experimental em coelhos

Acta Cirúrgica Brasileira, 2010
PURPOSE: The use of springs in cranial expansion has proven to be effective in the treatment of craniosynostosis. Spring-mediated expansion has been studied both in the sagittal and in parasagittal regions, especially in scaphocephaly. A rabbit model was
Rodrigo de Faria Valle Dornelles, Vera Lúcia Nocchi Cardim, Marília Trierveiler Martins, Ana Carolina Brandão de Campos Fonseca Pinto, Nivaldo Alonso   +4 more
doaj   +1 more source

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, Volume 12, Issue 32, August 28, 2025.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

A rare case of fronto-nasal dystosis with multiple dysmorphic features: comprehensive genetic analysis using whole genome sequencing

Journal of Rare Diseases
Frontonasal dysostosis (FND) is a rare congenital disorder characterized by craniofacial abnormalities with diverse clinical characteristics. We report a four-year-old male with clinical characteristics related to frontonasal dysostosis, including ...
Sanjukta Sahoo, Deepak Jena, Mamuni Swain, Bhawna Gupta, Ravi Kant Narayan, Prabhas Ranjan Tripathy, Arun Kumar S, Manisha Rajanand Gaikwad, Sunil Kumar Raghav   +8 more
doaj   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT This case report presents a rare occurrence of 49,XXXXY syndrome in a 14‐month‐old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge ...
Ankit Shrestha, Biraj Parajuli, Aakash Pandit   +2 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

Extracellular matrix: Dystroglycan interactions—Roles for the dystrophin‐associated glycoprotein complex in skeletal tissue dynamics

International Journal of Experimental Pathology, Volume 106, Issue 2, March 2025.
Abstract Contributions made by the dystrophin‐associated glycoprotein complex (DGC) to cell–cell and cell‐extracellular matrix (ECM) interactions are vital in development, homeostasis and pathobiology. This review explores how DGC functions may extend to skeletal pathophysiology by appraising the known roles of its major ECM ligands, and likely ...
Mark Hopkinson, Andrew A. Pitsillides
wiley   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source