Results 31 to 40 of about 53,776 (302)

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

Relationship between bridging and dimensions of sella turcica with classification of craniofacial skeleton [PDF]

, 2018
Purpose: In orthodontics, it is essential to determine the craniofacial skeleton pattern (class I, II, III) for planning treatment. Sella turcica bridging that is seen on lateral cephalometric radiographs is considered as a normal finding.
Dadgar, Sepideh, Hadian, Hoora, Musavi, Seyed Jaber, Seifi, Ali, Sobuti, Farhad   +4 more
core   +1 more source

PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE [PDF]

Acta Medica Iranica, 2003
The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects ...
M. Pourissa, S. Refahi N. Garaaghagi
doaj   +2 more sources

Predictability of hand skill and cognitive abilities from craniofacial width in right- and left-handed men and women: relation of skeletal structure to cerebral function [PDF]

, 2002
Recently, a family of homeobox genes involved in brain and craniofacial development was identified. In light of this genetic background, we hypothesized that some functional characteristics of human brain (hand skill, cognition) may be linked to some ...
Dayi, Ertunc, Okuyan, Mukadder, Tan, Uner   +2 more
core   +1 more source

Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]

, 2019
The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara, Cammaroto, G., Colizza, A., de Vincentiis, M., De Vito, A., Firinu, E., Gobbi, R., Greco, A., Gulotta, G., Iannella, G., Magliulo, G., Meccariello, G., Pace, A., Pelucchi, S., Polimeni, A., Vicini, C., Visconti, I. C.   +16 more
core   +2 more sources

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 2007
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Brain, C, Dillon, MJ, Richards, A   +3 more
core   +1 more source

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

Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers. [PDF]

, 2016
PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2.
Akil, Handan, Apinyawasisuk, Supanut, Garcia, Giancarlo A, Kim, Sarah, Sadun, Alfredo A, Tian, Jack J   +5 more
core   +3 more sources

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]

, 2013
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...
Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang   +84 more
core   +2 more sources

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