Apert syndrome: A rare anomalad
CHRISMED Journal of Health and Research, 2014 Apert syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet.
Himanshi Aggarwal +2 more
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Psychological and Behavioral Characteristics of Chromosomal Anomalies and Congenital Contiguous Gene Syndrome [PDF]
, 2015 Congenital anomalies exert significant impact on individuals and their families, with particularly negative effects on their quality of life. However, studies focusing on the psychological and behavioral characteristics of children with congenital ...
Diez, Higa Midory +3 more
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Frontiers in Education, 2019 There is very little research on cognitive outcomes and challenges for children with Apert syndrome. This paper describes the findings of a 2½-year longitudinal exploration of the development of arithmetic skills in 10 children with Apert syndrome, who ...
Caroline Hilton
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Apert Syndrome: A Case Report [PDF]
Iranian Journal of Neonatology, 2022 Background: Primary craniosynostosis is a form of premature fusion of the cranial sutures, which commonly occurs prenatally. The condition appears in both syndromic and nonsyndromic forms.Case report: The cause of most cases of primary craniosynostosis ...
Shahin Mafinejad +3 more
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Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]
, 2013 Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan +6 more
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Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia
Scripta Score Scientific Medical Journal, 2021 Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally.
Muhammad Pradhika Mapindra +1 more
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Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism [PDF]
, 2004 Defects of either anosmin-1 or fibroblast growth factor receptor 1 (FGFR1) are known to underlie hereditary Kallmann's syndrome (KS), a human disorder of olfactory and gonadotropin-releasing hormone (GnRH) neuronal ontogeny.
Bouloux, PM +8 more
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Prenatal development of skull and brain in a mouse model of growth restriction [PDF]
, 2016 Patterns of covariation result from the over-lapping effect of several developmental processes. By perturbing certain specific developmental processes, ex-perimental studies contribute to a better understanding of their particular effects on the ...
Barbeito Andrés, Jimena +2 more
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Apert Syndrome: orthopedic treatment [PDF]
, 2011 El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco +3 more
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Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]
, 2016 First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C. +12 more
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