Results 21 to 30 of about 6,061 (174)

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]

, 2014
IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna, Bienias, Piotr, Kaminska, Anna, Kostera-Pruszczyk, Anna, Lee, Hsien-Yang, Miszczak-Knecht, Maria, Ploski, Rafal, Potulska-Chromik, Anna, Pruszczyk, Piotr, Ptáček, Louis J, Quinn, Emily, Szczałuba, Krzysztof   +11 more
core   +2 more sources

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted [PDF]

, 2016
The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies.
Bever, Y. (Yolande) van, Blaauw, I. (Ivo) de, Hondel, D. (Desiree) van den, IJsselstijn, H. (Hanneke), Klein, A. (Annelies) de, Marcelis, C.L.M. (Carlo), Sloots, C.E.J. (Pim), Wijers, C.H.W. (Charlotte)   +7 more
core   +11 more sources

DEVIATION AND ATROPHY OF MIDDLE PHALANX OF HAND FOLLOWING PARTIAL SEPARATION IN SYNDACTYLY PATIENT: THEIR FAULT OR OURS?

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, Iswinarno Doso Saputro, Sitti Rizaliyana, Beta Subakti Nata’atmadja   +3 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.), Malik, Sajid Perwaiz   +1 more
core   +1 more source

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, Vishnu Priya Veeraraghavan, R Gayathri, S Kavitha   +3 more
doaj   +1 more source

Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit

Case Reports in Veterinary Medicine, 2016
We report the first case of spontaneous syndactyly reported in a pet rabbit. Syndactyly only caused an atypical gait in the rabbit. The radiological study revealed bilateral 3rd and 4th metatarsal bones fused in its entire length preserving normal joint ...
M. Gallego, L. Avedillo
doaj   +1 more source

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, Ajeet Kumar, Pawan K Dubey, Vivek Pandey, Ankur Singh   +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, Agustín Romero, Silvia Llambí, Andrea Branda Sica, María Teresa Federici Rodriguez, Federico Giannitti, Rubén Dario Caffarena, Carlos Omar Schild, María Laura Casaux, Fernando Dutra Quintela   +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, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
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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, Espías Gómez, Ángel F. (Ángel Fortunato), Herrero-Payo, Julio, Leonard, R.H., Sánchez Soler, Luis Alberto, Villarreal Becerra, Einer Niels   +5 more
core   +1 more source