Awareness about Patterson syndrome among dental students
Journal of Advanced Pharmaceutical Technology & Research, 2022 The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial bone and tissue growth (mandibulofacial dysostosis) as well as limb abnormalities.
M Dhakshinya +3 more
doaj +1 more source
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. [PDF]
, 2016 Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the ...
Farkas, Katalin +8 more
core +3 more sources
Unilateral syndactyly, hemihypertrophy, and hyperpigmentation with mosaic 2q35 deletion
Indian Journal of Dermatology, 2023 Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disorders
Akhtar Ali +4 more
doaj +1 more source
Lethal and semi-lethal mutations in Holstein calves in Uruguay [PDF]
Ciência Rural, 2021 : Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production.
Carolina Briano-Rodriguez +9 more
doaj +1 more source
Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate [PDF]
, 2015 Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans.
Arzi, B +19 more
core +5 more sources
Application of external fixator traction in the treatment of syndactyly
Journal of Orthopaedic Translation, 2020 Summary: Objective: To introduce the application of Ilizarov techniques in the treatment of syndactyly. Methods: From January 2016 to January 2019, 6 cases of pediatric syndactyly were treated by the simple Ilizarov external fixator device in our ...
Yidong Cui +9 more
doaj +1 more source
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
Streeter Dysplasia in Association with Cleft Palate: A Case Report [PDF]
Indian Journal of Neonatal Medicine and Research, 2015 Streeter dysplasia, a synonym of Amniotic Band Syndrome (ABS) is a wide spectrum of complex, controversial congenital anomalies. The disease varies in its severity which can range from a simple constriction ring to more severe and lethal forms like ...
Fairy Susan Varghese +2 more
doaj +1 more source
Apert syndrome: the Paris and Rotterdam philosophy [PDF]
, 2017 Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric) +8 more
core +2 more sources
General and oral aspects in Apert syndrome: report of a case [PDF]
, 2015 Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo +5 more
core +1 more source