Results 51 to 60 of about 665 (159)

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  

Successful acne management in Apert syndrome twins

, 2005
Apert syndrome, or acrocephalosyndactyly, is characterized by craniosynostosis and early epiphyseal closure resulting in various deformities of the skull, hands, and feet.
Schachner, Lawrence A, Trowers, Andrea B, Benjamin, Latanya T   +2 more
core   +1 more source

Association of persistent falcine sinus with different clinicoradiologic conditions: MR imaging and MR angiography

, 2000
Nine pediatric patients are reported with persistent falcine sinuses associated with a variety of clinicoradiologic conditions and disorders. Besides MR imaging studies four patients had MR angiography examinations.
Sener, RN, R.N Sener
core   +1 more source

Saethre-chotzen syndrome: Review of the literature and report of a case

, 2000
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described.
A. Hassanipour, M. Galiè, O. Calabrese, CLAUSER, Luigi   +3 more
core   +1 more source

Variable expressivity in acrocephalosyndactyly syndrome type I. A report of two patients

Acta Médica del Centro, 2015
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet.
Noel Taboada Lugo, Noelya Velky Montecinos Zubieta, Kenia González Hernández   +2 more
doaj  

Management of complicated syndactyly in Apert’s syndrome: our experience

, 2009
Background: Management of hand deformities in Apert’s acro-cephalo-syndactyly usually poses a great challenge to the reconstructive hand surgeon due to grossly abnormal anatomy of skeletal and soft tissuestructures associated with a progressive disease ...
Chira, MK, MK Chira, JN Kortor, Kortor, JN   +3 more
core   +1 more source

Apert Syndrome - caveats of squint management. [PDF]

Rom J Ophthalmol, 2023
Khurana R, Singh A, Kochhar D, Sundar S.
europepmc   +1 more source

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers. [PDF]

Cureus, 2023
Kumari K, Saleh I, Taslim S, Ahmad S, Hussain I, Munir Z, Javed T, Virk MFI, Javed S, Bisharat P, Ur Rehman U.   +10 more
europepmc   +1 more source

Revista de la Facultad de Ciencias Médicas. Universidad de Cuenca

, 2017
El Síndrome de Apert llamado también acrocefalosindactilia tipo I, está caracterizado por craneosinostosis, sindactilia simétrica en las cuatro extremidades, retardo mental, alteraciones cutáneas y maxilofaciales; está ocasionado por una mutación en ...
Ochoa, Eddy, Silva Vásquez, Mirian, Serrano Serrano, Adrián, Peñafiel Ortíz, Betcy, Sempertegui, Pablo, Saeteros Cordero, Xavier Eduardo, Palacios Astudillo, Rodrigo Xavier, Salinas Pozo, María Victoria   +7 more
core  

Diagnosing fetal apert syndrome: a case study on prenatal diagnosis and genetic insights. [PDF]

Quant Imaging Med Surg
Ge T, Zhang C, Qi J, Deng X, Du X, Wang Y, Tao J, Zou B, Lin X.   +8 more
europepmc   +1 more source