Results 51 to 60 of about 809 (163)

Abordagem clínica e radiográfica de um caso de Síndrome de Apert: relato de uma rara anomalia craniofacial [PDF]

, 2023
Introdução: A síndrome de Apert (SA) é uma desordem genética rara, no entanto com manifestações dismórficas craniofaciais e de membros severos que afetam a qualidade de vida e desenvolvimento intelectual dos pacientes acometidos.
Alberici, Arthur Sebba Rady, Alves, Ádhira Giovanna de Andrade, Andrade, Isabella Gonçalves, Bernardino, Renata Nascimento, Cunha, Isadora Vargas, de Aquino, Douglas Endo, de Meira, Jessica Laís Caregnato, de Oliveira, Isadora Afiune Thomé, Maselli, Viviane Tavares, Moniz, Karynn Lyra, Vieira, Mariana Soares, Wilhelms, Diene Landvoigt   +11 more
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Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) [PDF]

, 1977
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA)
Myer, Edwin C., Nance, Walter E., Wilkins, Louise E., Winter, Robin M.   +3 more
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Infantile hypertrophic pyloric stenosis in patients with esophageal atresia [PDF]

, 2020
Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are
Beelen, N.W.G. (Nicole) van, Bever, Y. (Yolande) van, Brands, T. (Tom), Brooks, A.S. (Alice), Brosens, E. (Erwin), Brouwer, R.W.W. (Rutger), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Hofstra, R.M.W. (Robert), Huigh, D. (Daphne), IJcken, W.F.J. (Wilfred) van, IJsselstijn, H. (Hanneke), Kate, C.A. (Chantal) ten, Klein, A. (Annelies) de, Martens, V.K. (Vera K.), Tibboel, D. (Dick), Wijnen, R.M.H. (René)   +16 more
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Apert syndrome (Acrocephalosyndactyly): a case report [PDF]

, 2017
Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of
Kumar, M. Praveen, Saritha, S., Supriya, Sumangala, G.   +2 more
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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
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Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome [PDF]

, 1985
The metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome
Butler, Merlin G., Hersh, Joseph H., Hornstein, Lusia, Kittur, Smita, Meaney, F. John   +4 more
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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

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  

SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE [PDF]

, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Agus Santoso Budi, Magda Rosalina Hutagalung, Williams Mesang   +2 more
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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