Results 41 to 50 of about 2,319 (218)
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2020 Obstructive sleep apnea syndrome is prevalent in children with syndromic craniosynostoses. Here we assessed the effects of fronto-facial monobloc advancement with internal distraction on obstructive sleep apnea in syndromic craniosynostoses. All patients
R. Khonsari +9 more
semanticscholar +1 more source
Crouzon syndrome and the eye: An overview
Indian Journal of Ophthalmology, 2022 The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of
Kasturi Bhattacharjee +7 more
doaj +1 more source
Pitfalls in counselling: the craniosynostoses. [PDF]
Journal of Medical Genetics, 1991 We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members.
R, Marini +4 more
openaire +2 more sources
International Journal of Medical Students, 2013 Fibroblast growth factor receptor (FGFR) gain-of-function mutations form the pathogenic basis of multiple congenital pathologies. A pioneering body of work over the past two decades has established that a unique mutation selection process within the ...
Stuart J. Mires
doaj +1 more source
Posterior vault distraction technique : how I do it [PDF]
, 2021 Posterior cranial vault distraction is an effective technique when a significant increase in the intracranial volume is required in patients with craniosynostoses.
Serlo, Willy +9 more
core +1 more source
, 2021 CHARGE syndrome is a rare genetic multiple-malformation disorder characterized by wide phenotypic variability. It is often caused by heterozygous variants in CHD7 and, more rarely, SEMA3E. Although craniofacial alterations are frequent in this condition,
De Luca C. +21 more
core +1 more source
, 2023 Craniosynostoses are a group of rare diseases caused by the premature fusion of one or more sutures of the cranial vault. Trigonocephaly and anterior plagiocephaly are respectively caused by the premature fusion of the metopic and one of the coronal ...
Geoffroy, Maya
core +4 more sources
, 2021 Introduction : les séries décrivant de manière quantitative la réossification des défects osseux secondaires aux chirurgies correctrices de craniosynostoses sont rares et souffrent d’une méthodologie non reproductible.
Berton, Quentin
core +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
, 2010 The history and evolution of surgical strategies for the treatment of Kleeblattschädel deformity are not well described in the medical literature.
Alan R. Cohen +11 more
core +1 more source