Results 71 to 80 of about 961 (204)

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Expresividad variable en el síndrome de acrocefalosindactilia tipo I. A propósito de dos pacientes [PDF]

, 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.
González Hernández, Kenia, Montecinos Zubieta, Noelya Velky, Taboada Lugo, Noel   +2 more
core   +2 more sources

Apert′s Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has
Madhura Dalal, Naresh C Soni
doaj  

Apert syndrome with frontonasal encephalocele [PDF]

, 1985
We describe a female infant with Apert syndrome (acrocephalosyndactyly, type I) and a frontonasal encephalocele with unremarkable family history.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38238/1/1320210422_ftp ...
Barr, Mason, DiPietro, Michael A., Waterson, John R.   +2 more
core   +1 more source

Extracranial anomalies of the common craniosynostosis syndromes [PDF]

, 1998
This thesis describes the clinical and radiological investigations into the anomalies which occur extracranially in the four most common craniosynostosis syndromes eponymously named Crouzon, Pfeiffer, Apert and Saethre-Chotzen. The anomalies include
Anderson, Peter John
core   +1 more source

Rare diseases and congenital malformations integrated registry in Tuscany-Italy [PDF]

Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment.
Bianchi, Fabrizio, Pierini, Anna, Pieroni, Federica, Rial, Michela   +3 more
core  

Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: An Applied Anthropometric Method [PDF]

, 1986
The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones.
Archibald, Arias, Arias, Arias, Butler, Butler, Butler, Dijkstra, Escobar, Felman, Fenger, Gall, Garn, Giedion, Halal, Halal, Hayes, Kaler, Kaler, Landry, Miura, Mooij, Parish, Park, Peeters, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Poznanski, Proger, Robinow, Say, Schinzel, Shprintzen, Young   +38 more
core   +1 more source

A case of Pfeiffer syndrome. [PDF]

, 2006
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea.
Moon Sung Park, Jae Eon Yoo, Jaiho Chung, Soo Han Yoon, Pfeiffer, Martsolf, Moore, Muenke, Robin, Schell, Teebi, Goodrich, Plomp, Nagase, Sakai, Cohen, Goriely, Stone, Vallino-Napoli, McCarthy, Wilkie, Martsolf, Panthaki, Passos-Bueno, Rutland, Hajihosseini, Bae, Chun, Gripp   +28 more
core   +1 more source

An Approach to the Airway Management in Children with Craniofacial Anomalies [PDF]

, 2020
Managing the airways during anesthesia in pediatric patients with craniofacial abnormalities is a challenging and stressful situation for even experienced anesthesiologists.
Adham, Al Moataz Billah, Al-Khelaifi, Mashael, Assaf, Omed, Boudjenah, Brahim, Chinnappa, Surendra M.   +4 more
core   +1 more source

Diagnosis of Pfeiffer Syndrome with Umbilical Hernia

Pakistan Journal of Medicine and Dentistry
Pfeiffer syndrome (PS) is a form of acrocephalosyndactyly, a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Bhesham Kumar Shahani, Aneel Kumar Vaswani, Waseem Mehmood Nizamani   +2 more
doaj