Results 61 to 70 of about 5,099 (159)

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT [PDF]

, 2011
International audienceNeuroblastoma (NB) is a frequent embryonal tumour of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic lymphoma receptor tyrosine ...
Amiel, Jeanne, Balu, Laurent, Boddaert, Nathalie, Brugière, Laurence, De Pontual, Loic, Delattre, Olivier, Etchevers, Heather C, Gordon, Chris, Janouex Larosey, Isabelle, Kettaneh, Dania, Lachassinne, Eric, Less, Melissa, Lyonnet, Stanislas, Mollet, Julie, Munnich, Arnold, Oufadem, Myriam, Petros, Andy, VEKEMANS, Michel, Wilson, LC   +18 more
core   +4 more sources

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 215-222, January 2026.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Relationships between cranial base synchondroses and craniofacial development: a review [PDF]

, 2010
: Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development.
Cendekiawan, T, Rabie, ABM, Wong, RWK
core   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, EarlyView.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

An Artificial Intelligence System for Staging the Spheno‐Occipital Synchondrosis

Orthodontics &Craniofacial Research, Volume 28, Issue 6, Page 998-1007, December 2025.
ABSTRACT Objective The aim of this study was to develop, test and validate automated interpretable deep learning algorithms for the assessment and classification of the spheno‐occipital synchondrosis (SOS) fusion stages from a cone beam computed tomography (CBCT).
Omid Halimi Milani, Lauren Mills, Amanda Nikho, Marouane Tliba, Halil Ayyildiz, Veerasathpurush Allareddy, Rashid Ansari, Ahmet Enis Cetin, Mohammed H. Elnagar   +8 more
wiley   +1 more source

The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus [PDF]

, 2017
Background: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. Objective: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation ...
Enderlein, S., Failing, K., Fischer, A., Gorgas, D., Kampschulte, M., Lang, J., Ludewig, E., Meyer-Lindenberg, A., Ondreka, N., Schaubmar, A. R., Schmidt, M. J.   +10 more
core   +2 more sources

Anesthesia challenges in a case of Crouzon syndrome for corrective rigid external distraction frame insertion

The Indian Anaesthetists' Forum, 2019
Crouzon syndrome is an autosomal dominant disease occurs in approximately 1 in 25,000 births, due to a mutation in the fibroblast growth factor receptor 2 gene on chromosome 10 characterized by craniosynostosis, mid-face hypoplasia, hypertelorism, high ...
Veena Ganeriwal, Paulomi Dey, Baburao Gore, Tejesh Hujare   +3 more
doaj   +1 more source

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia

Prenatal Diagnosis, Volume 45, Issue 11, Page 1433-1441, October 2025.
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Camille Verebi, Victor Gravrand, Claire Guerini, Olivia Anselem, Nicolas Vaucouleur, Lucie Orhant Boimard, Rachida Ben Ouazzou, Ceren Demirtas, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Emmanuelle Pannier, Juliette Nectoux   +12 more
wiley   +1 more source

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

, 2017
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ~1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of
Abid, N. (Noina), Cilliers, D. (Deirdre), Craft, J. (Judith), Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hurst, J.A. (Jane), Johnson, D. (David), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon), Miller, K.A. (Kerry A.), Morton, J. (Jenny), Noons, P. (Peter), Phipps, J.M. (Julie), Rees, K.E.M. (Katie E.M.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Sweeney, E. (Elizabeth), Taylor, J. (John), Taylor, J.C. (Jenny C.), Tidey, E.A. (Elizabeth A.), Twigg, S.R.F. (Stephen), Wall, S.A. (Steven), Weber, A. (Astrid), Wilkie, A.O.M. (Andrew), Wilson, L.C. (Louise)   +26 more
core   +1 more source