Results 81 to 90 of about 3,759 (221)

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co‐occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11
Mary Ann Thomas, Tanya Bedard, Susan Crawford, R. Brian Lowry   +3 more
wiley   +1 more source

Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Case Reports in Medicine, 2011
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD).
Manoj Kumar, Rakesh Kumar, Mukesh Tanwar, Supriyo Ghose, Jasbir Kaur, Rima Dada   +5 more
doaj   +1 more source

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

The Journal of Clinical Investigation, 2023
Mutations of G protein–coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ETAR/EDNRA) as a recurrent mutation causing ...
Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara   +12 more
doaj   +1 more source

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-golgi junctions [PDF]

, 2016
Lenz-Majewski syndrome (LMS) is a rare disease characterized by complex craniofacial, dental, cutaneous, and limb abnormalities combined with intellectual disability. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes,
Daniel J. Toth, H. Alex Brown, Lenz, Mira Sohn, Nishijima, Pavlina Ivanova, Peter Varnai, Sousa, Tamas Balla, Tóth, Yeun Ju Kim   +10 more
core   +1 more source

Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
Feeding difficulty may constitute a component of the phenotypic spectrum associated with rare genetic diseases, warranting careful consideration and thorough investigation. Whole‐exome sequencing can enhance molecular diagnosis accuracy for infants with feeding difficulties.
Mingyu Han, Wei Shi, Xiangxiang Chen, Dingwen Wu, Yi Sun, Weiyan Wang, Canyang Zhan, Lingling Hu, Tianming Yuan   +8 more
wiley   +1 more source

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism

Birth Defects Research, Volume 116, Issue 7, July 2024.
Abstract Background Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly ...
Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié‐Bitach   +16 more
wiley   +1 more source

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Arquivos de Neuro-Psiquiatria
Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.
Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes   +5 more
doaj   +1 more source

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Aoto, Aylsworth, Bernier, Beygo, Bhat, Bowman, Chakraborty, Chemke, Ciccia, Conley, Czeschik, Dai, Dai, Dauwerse, Deml, Devotta, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Dixon, Edwards, Edwards, Fang, Fang, Fazen, Frisdal, Garden, Gladwin, Gonzales, Guion-Almeida, Hail, Hall, Haupt, Hayano, Isaac, Jones, Jones, Kennedy, Komarov, Kuo, Larsen, Lau, Le Douarin, Levine, Lin, Lohrum, Luquetti, Marechal, Marres, Marsh, Masotti, Miller, Ng, Noack Watt, Noden, Nur, Petit, Phelps, Poswillo, Rainger, Richter, Robert, Rovin, Sagar, Sakai, Sakai, Saudi Mendeliome, So RB, Splendore, Splendore, Splendore, Teber, The Treacher Collins Syndrome Collaborative Group, Toledo, Trainor, Trainor, Trainor, Trainor, Trainor, Trainor, Valdez, Vincent, Watanabe, Weaver, Werner, White, Winokur, Wise, Xue, Yao   +92 more
core   +1 more source

Prevalence and distribution of selected dental anomalies among saudi children in Abha, Saudi Arabia [PDF]

, 2016
Dental anomalies are not an unusual finding in routine dental examination. The effect of dental anomalies can lead to functional, esthetic and occlusal problems.
Yassin, Syed M.
core   +1 more source