Results 71 to 80 of about 809 (163)

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

open access: yesActa 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   +2 more
doaj  

Apert's syndrome [PDF]

open access: yes, 2004
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly.
Mukhopadhyay Amiya Kumar , Mukherjee Debjani
core  

A rare case of neonatal Apert syndrome [PDF]

open access: yes
Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusionof cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet.
Ahmed, S K Nazeer, Kumar, T Ravi
core   +1 more source

Apert Syndrome - caveats of squint management. [PDF]

open access: yesRom J Ophthalmol, 2023
Khurana R, Singh A, Kochhar D, Sundar S.
europepmc   +1 more source

Apert syndrome and repercussions in Dental Medicine [PDF]

open access: yes, 2020
Apert’s syndrome is a craniosynostosis syndrome caused by mutations in the gene coding for the fibroblast growthfactor receptor 2 (FGFR2), characterized by craniosynostosis, midface hypoplasia and syndactyly of the hands and feet.
Cardoso, Inês Lopes, Paula, Lígia de
core  

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

open access: yesCureus, 2023
Kumari K   +10 more
europepmc   +1 more source

Acrocephalosyndactyly

open access: yesThe American Journal of Medicine, 1972
Max B. Rubin   +2 more
openaire   +3 more sources

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