Results 71 to 80 of about 5,209 (186)

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. [PDF]

PLoS ONE, 2011
The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular).
Neus Martínez-Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T Richtsmeier   +5 more
doaj   +1 more source

Patterns of brain growth in one FGFR2 mouse model for Apert Syndrome [PDF]

, 2010
Apert syndrome is a disorder associated with craniosynostosis resulting from one of two mutations in Fibroblast Growth Factor Receptor 2 (FGFR2). Individuals with Apert syndrome demonstrate brain dysmorphology, often associated with cognitive deficits ...
Austin, Jordan, Gant, Cortaiga, Hill, Cheryl A.   +2 more
core  

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

Gingival enlargement following levetiracetam treatment: A clinical case analysis

Epilepsia Open, Volume 10, Issue 5, Page 1695-1698, October 2025.
Abstract This report describes a 21‐year‐old female with a history of epilepsy, diagnosed at age 17, who developed gingival enlargement after being treated with levetiracetam. Her dosage was titrated to 750 mg twice daily, achieving satisfactory seizure control.
Awadh M. Alahmari, Ali M. Alkhathaami
wiley   +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

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

Clinical Genetics, Volume 108, Issue 4, Page 479-485, October 2025.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick‐Esteve, Gregory M. Cooper, Stephen R. F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor   +8 more
wiley   +1 more source

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC Medical Genetics, 2011
Background Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with ...
Klatt Regan EM, Bowdin Sarah C, Fenwick Aimee L, Wilkie Andrew OM   +3 more
doaj   +1 more source

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source