Results 61 to 70 of about 4,207 (207)

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order.
K Nagaraju, E Ranadheer, P Suresh, S P Tarun   +3 more
doaj   +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

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Crouzon Syndrome with Ocular Abnormalities: A Case Report [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
Crouzon syndrome is a rare genetic disorder characterized by premature closure of cranial sutures, exophthalmos, beak-like nose and mid facial hypoplasia. It was initially described as hereditary syndrome of craniofacial synostosis.
Shakeen Singh, Anubha Bhatti, Mabel Bishnoi   +2 more
doaj   +1 more source

Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea [PDF]

, 2018
Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals – such as those with upper airway resistance syndrome (UARS) – do not have abnormalities on polysomnography (PSG).
Corel, L.J.A. (Linda), Goederen, R. (Robbin) de, Joosten, K.F.M. (Koen), Kakar, E. (Ellaha), Mathijssen, I.M.J. (Irene), Tasker, R.C. (Robert), Wolvius, E.B. (Eppo)   +6 more
core   +3 more sources

A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci, Sofia Ceffa, Sartor Giovanna, Maria Gnazzo, Antonio Novelli, Antonio La Marca   +5 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

Pterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs

Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.
Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen, M. A. Genain, J. F. Ladlow, N.‐C. Liu   +3 more
wiley   +1 more source

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

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