Results 21 to 30 of about 3,759 (221)

Crouzon syndrome in a ten-week-old infant: A case report

Saudi Journal of Medicine and Medical Sciences, 2020
Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations.
Sangeeta Gupta, Arun Prasad, Upasna Sinha, Ramji Singh, Gaurav Gupta   +4 more
doaj   +1 more source

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

Treacher Collins syndrome-a case report and review of literature [PDF]

, 2011
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core   +1 more source

Midface advancement in an adult patient with Crouzon syndrome: Modified LeFort III + LeFort I osteotomy accompanied by genioplasty and nasal dorsum augmentation

Dental Research Journal, 2022
Crouzon syndrome is an autosomal dominant trait, leading to midface deficiency, undeveloped orbits, short nasal dorsum, and exophthalmos as the typical clinical features.
Milad Etemadi Sh, Golnaz Tajmiri
doaj   +1 more source

Orbital causes of incomitant strabismus [PDF]

, 2015
Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core   +3 more sources

Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Egyptian Journal of Medical Human Genetics, 2014
Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.
Rabah M. Shawky, Nermine Amr, Heba Salah, Shaimaa Gad   +3 more
doaj   +1 more source

Nager Syndrome: A Case Report

Pediatrics and Neonatology, 2012
Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies ...
Ju-Li Lin
doaj   +1 more source

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

, 2017
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...
A Dauber, A Ramu, Alex Henderson, Angus Clarke, C Wells, CA Martin, CF Wright, D D D Study, D Lehalle, D Trujillano, David R FitzPatrick, Fiona Stewart, Franziska Roessler, HV Firth, J Thevenon, Jane Hurst, JBGM Verheij, Jonathan Zonana, Julie Vogt, Julien Thevenon, Kaja K Selmer, Karen J Low, Katrina Tatton-Brown, Kory Keller, M Ansari, M Kircher, M Tooley, Magnus D Vigeland, Marjolaine Willems, Mark Greenslade, MD Vigeland, Michael C Schneider, ML Hastings, Morad Ansari, Paul Kuentz, Rami Abou Jamra, S El Chehadeh, Salima El Chehadeh, Sarah F Smithson, SB Patel, Trine Prescott   +40 more
core   +3 more sources

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

Prosthetic rehabilitation of a Crouzon patient: A case report

Contemporary Clinical Dentistry, 2010
Crouzon syndrome is a rare genetic disorder, which can be defined as a variation of craniofacial dysostosis caused by the premature obliteration and ossification of two or more sutures.
Hanefi Kurt, Burç Gençel, Aydin C Kader   +2 more
doaj   +1 more source