Results 61 to 70 of about 2,768 (208)

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

Orthodontic-orthopedic-surgical treatment of syndromic third class: proposal of a new craniofacial cephalometric method

, 2019
The management of patients suffering from class III due to syndromic craniosynostosis requires a multidisciplinary team to prevent and correct the complex clinical features related to the syndrome. Among the main clinical features, the midface hypoplasia
Valentina Mazzoli, Roberto Antonio Vernucci, Ersilia Barbato, Emanuela Coppotelli, Veronica Incisivo, Alessandro Silvestri   +5 more
core   +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

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang   +8 more
doaj   +1 more source

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear ...
Al-Saei, Omayma, Kamboh, Abdul-Rauf, Waleed Aamer (14056969), Padmajeya, Sujitha, Ammira Al-Shabeeb Akil (14152569), Aamer, Waleed, Omayma Al-Saei (18288931), Abdul-Rauf Kamboh (18288937), Najwa Elbashir (18288934), Elbashir, Najwa, Sujitha Padmajeya (14152554), Khalid Fakhro (3441305), Kohailan, Muhammad, Al-Shabeeb Akil, Ammira, Fakhro, Khalid, Muhammad Kohailan (748774)   +15 more
core   +1 more source

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide‐B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish

Birth Defects Research, Volume 116, Issue 11, November 2024.
ABSTRACT Background Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies.
Yukiko Hoshino, Shujie Liu, Toshiko Furutera, Takahiko Yamada, Daisuke Koyabu, Yuko Nukada, Masaaki Miyazawa, Tetsuya Yoda, Koichiro Ichimura, Sachiko Iseki, Junichi Tasaki, Masaki Takechi   +11 more
wiley   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

Congenital malformation in green turtle embryos and hatchlings

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 341, Issue 8, Page 925-936, October 2024.
– We aimed to examine and characterize the congenital malformations observed in green turtle nests. – We conducted the study in 2022 and examined 907 green turtle nests on Samandağ beach, eastern Mediterranean. – We recorded a total of 2986 instances of congenital malformations, with a prevalence of 39% and a severity rate of 3.8%.
Bektaş Sönmez, Özlem Sağol
wiley   +1 more source

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source

Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes

Prenatal Diagnosis, Volume 44, Issue 10, Page 1150-1158, September 2024.
Abstract Objective Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses—=CHARGE and Mandibulo‐Facial Dysostosis Guion Almeida type (MFDGA)—versus controls. Method We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes ...
Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Jeanne Amiel, Lucile Boutaud, Maxime Douillet, Stanislas Lyonnet, Vèronique Pingault, Arnaud Picard, Marlèe Rio, Tania Attie‐Bitach, Roman H. Khonsari, Nathalie Roux   +14 more
wiley   +1 more source