Results 191 to 200 of about 130,920 (262)

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. [PDF]

, 2018
Fackler, Nathan, Kim, Dong Joo, Sarpa, Hege Grande, Smith, Janellen, Zachary, Cameron   +4 more
core  

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia, Berardo Rinaldi, Cinzia Maspero   +5 more
wiley   +1 more source

Characteristics and treatment outcomes for presumed congenital superior oblique palsy in adults. [PDF]

BMC Ophthalmol
Joo HJ, Jang Y, Moon Y, Kim SJ, Kim DH, Jung JH.   +5 more
europepmc   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review. [PDF]

Front Genet
Zhang M, Liu M, Wang R, Ma F, Mao G.
europepmc   +1 more source

Congenital Biliary Hypoplasia

Annals of Surgery, 1964
openaire   +3 more sources

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, EarlyView.
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery. [PDF]

Aesthet Surg J
Huang KX, Cascavita CT, Shariati K, Hall AE, Argame AA, Taki Labib MA, Taylor JM, Nguyen NH, Lee JC.   +8 more
europepmc   +1 more source

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants. [PDF]

Hum Genomics
Xi J, Deng F, Liang M, Ding Y, Li X, Gu Z, Lin Z, Liu Z, Li X.   +8 more
europepmc   +1 more source