Results 31 to 40 of about 16,390 (254)
Jurnal Rekonstruksi dan Estetik, 2018 Highlights: • Complex syndactyly reconstruction presents surgical challenges, often resulting in rotational, angular, and nail deformities post-surgery.
Diana Murtiati Kusuma +3 more
doaj +1 more source
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
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia [PDF]
, 2013 Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Almeida, S +7 more
core +6 more sources
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
Gene mapping in syndactyly families [PDF]
, 2005 Non-syndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and/or toes. It has a prevalence of 3 per 10,000 births. The malformation can be unilateral or bilateral, and the fusion within the web may be cutaneous or bony ...
Koch, Manuela C. (Prof. Dr. med.) +1 more
core +1 more source
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
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
Congenital deformity of the distal extremities in three dogs [PDF]
, 2016 Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical
Della Valle, G. +4 more
core +4 more sources
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