Results 41 to 50 of about 809 (163)

A Case of Saethre-Chotzen Syndrome [PDF]

, 1977
Saethre-Chotzen syndrome was described independently by the Norwegian psychiatrist, Saethre, and the German psychiatrist, Chotzen, in the 1930s; since that time many cases have been reported, some using the terms acrocephalosyndactyly, type III, and ...
Mamunes, Peter, McKeon-Kern, Catherine
core   +1 more source

A case report describing insights into the imaging of Apert syndrome

Rare
Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies.
Diksha Goyal, Poonam Sherwani
doaj   +1 more source

Gene array of primary human osteoblasts exposed to enamel matrix derivative in combination with a natural bone mineral [PDF]

, 2018
Objectives: The application of an enamel matrix derivative (EMD) for regenerative periodontal surgery has been shown to promote formation of new cementum, periodontal ligament, and alveolar bone.
Bosshardt, Dieter, Buser, Daniel, Miron, Richard, Sculean, Anton, Zhang, Yufeng   +4 more
core  

Baja talla por déficit selectivo e idiopático de hormona de crecimiento asociado al Síndrome de Crouzon

Ciencia y Salud, 2017
El Síndrome de Crouzon constituye la craneosinostosis compleja más frecuente y conocida. Se transmite de forma autosómica dominante, con expresión variable, no tiene predilección racial ni de sexo y es infrecuente su asociación con el déficit selectivo ...
Francisco Carvajal Martínez, José María Basain Valdés, Annia Quintana Marrero, Annia Ladrón de Guevara Casals   +3 more
doaj   +1 more source

Apert Syndrome Presenting with Omphalocele [PDF]

Journal of Krishna Institute of Medical Sciences University, 2019
Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar, Sarika Gaikwad, Punam Uke, Keta Vagha, Yash Dalal   +4 more
doaj  

Pfeiffer syndrome [PDF]

, 2006
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet.
A Nazzaro, Annick Vogels, AO Wilkie, BR Benacerraf, D Soekarman, Jean-Pierre Fryns, MM Cohen, NG Hockstein, RA Kroczek, RA Pfeiffer, RL Glaser, U Schell   +11 more
core   +3 more sources

Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome [PDF]

, 2016
n/
Kosiński, Przemysław, Luterek, Katarzyna, Wielgoś, Mirosław   +2 more
core   +2 more sources

Генетическая регуляция формирования лица и конечностей [PDF]

, 2006
ГЕНОМ ...
Гатальский, В. В., Зайцев, Д. В., Казеко, А. Г.   +2 more
core  

Linkage analysis in dominant acrocephalosyndactyly. [PDF]

Journal of Medical Genetics, 1978
Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in
J R, Eastman, V, Escobar, D, Bixler
openaire   +2 more sources

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source