Results 21 to 30 of about 390,574 (294)

Roberts syndrome with tetraphocomelia: A case report and literature review

SAGE Open Medical Case Reports, 2022
Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the “Establishment of cohesion 1 homolog 2” genes, resulting in the loss of acetyltransferase
Boniface Chukwuneme Okpala, Sylvia Tochukwu Echendu, Joseph Ifeanyichukwu Ikechebelu, George Uchenna Eleje, Ngozi Nneka Joe-Ikechebelu, Louis Anayo Nwajiaku, Cyril Emeka Nwachukwu, Emeka Philip Igbodike, Mark Chinedu Nnoruka, Augusta Nkiruka Okpala, Chukwuemeka Jude Ofojebe, Osita Samuel Umeononihu   +11 more
doaj   +1 more source

Audiologic consequences of craniofacial abnormalities and the role of the audiologist on the craniofacial interdisciplinary team [PDF]

, 2010
Craniofacial abnormalities refer to malformations or anomalies of the face or head. When a child is born with a craniofacial abnormality, various aspects of growth and development can be affected.
Ruwe, Andrea
core   +1 more source

Radiographic cephalometry analysis of head posture and craniofacial morphology in oral breathing children [PDF]

Vojnosanitetski Pregled, 2017
Background/Aim. Nasal breathing plays an important role in overall physical growth and mental development, as well as in the growth of the craniofacial complex. Oral breathing over a long period of time, can cause changes in position of the head relative
Vukićević Vladanka, Pavlović Jasna, Vujačić Amila, Martinović Brankica, Kostić Mirjana, Staletović Danijela   +5 more
doaj   +1 more source

Advances in Understanding the Pathogenesis of Craniofacial Birth Defects

, 2022
Each year approximately 35% of babies are born with craniofacial abnormalities of the skull, jaws, ears, and/or teeth, which in turn can lead to problems in feeding, hearing, and sight [...]
Tavares, Andre L. P., Sally A. Moody, Tavares, Andre L, Moody, Sally A, Andre L. P. Tavares, Moody, Sally A.   +5 more
core   +1 more source

Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome [PDF]

American Journal of Neuroradiology, 2012
HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed.
N J, Ullrich, V M, Silvera, S E, Campbell, L B, Gordon   +3 more
openaire   +2 more sources

Case Report: A Neuro-Ophthalmological Assessment of Vision Loss in a Pediatric Case of McCune-Albright Syndrome

Frontiers in Medicine, 2022
Patients diagnosed with McCune-Albright Syndrome (MAS) frequently manifest craniofacial fibrous dysplasia (FD). Craniofacial FD can impinge nerve fibers causing visual loss as well as craniofacial pain.
Jordan D. Lemme, Anthony Tucker-Bartley, Anthony Tucker-Bartley, Laura A. Drubach, Nehal Shah, Laura Romo, Mariesa Cay, Stephan Voss, Neha Kwatra, Leonard B. Kaban, Adam S. Hassan, Alison M. Boyce, Jaymin Upadhyay, Jaymin Upadhyay   +13 more
doaj   +1 more source

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Frontiers in Cell and Developmental Biology, 2022
Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene.
Yuhan Sun, Yuhan Sun, S. Ram Kumar, S. Ram Kumar, Chee Ern David Wong, Zhiyu Tian, Haipeng Bai, Haipeng Bai, J. Gage Crump, Ruchi Bajpai, Ruchi Bajpai, Ching Ling Lien, Ching Ling Lien, Ching Ling Lien   +13 more
doaj   +1 more source

Longitudinal Morphomolecular Monitoring of Head and Neck Carcinogenesis

Advanced Science, EarlyView.
A miniaturized endoscopic probe that integrates Raman spectroscopy and optical coherence tomography, enabling simultaneous molecular and structural imaging of living tissue, was developed. Applied longitudinally in a mouse model of head and neck cancer, the system tracks disease progression from precancerous lesions to invasive cancer.
Jianrong Qiu, Priyanka G. Bhosale, Vishal Kumar, Jeyrroy Gabriel, Shiyue Liu, Ciro Chiappini, Richard J. Cook, Mads S. Bergholt   +7 more
wiley   +1 more source

Living with a craniofacial condition: Development of the Craniofacial Experiences Questionnaire (CFEQ) for adolescents and their parents

, 2011
Objective: To develop a new instrument (the Craniofacial Experiences Questionnaire, CFEQ) to measure both stressors and positive aspects of living with a craniofacial condition from adolescent and parent perspectives, and to examine its validity and ...
Rosalyn Shute, Shute, Rosalyn, Roberts, R., Rachel M. Roberts, Shute, R., Roberts, Rachel   +5 more
core   +1 more source

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source