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Cleft Palate in Apert Syndrome [PDF]

Journal of Developmental Biology, 2022
Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midface retrusion, and limb anomalies. Cleft palate occurs in a subset of Apert syndrome patients.
Delayna Willie, Greg Holmes, Ethylin Wang Jabs, Meng Wu   +3 more
doaj   +5 more sources

Clinical manifestations of Apert syndrome [PDF]

Clinical Case Reports, 2023
Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical examination, so that if this appears in the outpatient department, the diagnosis of ...
Qaisar Ali Khan, Christopher Farkouh, Muhammad Uzair, Bikona Ghosh   +3 more
doaj   +5 more sources

Apert Syndrome [PDF]

Indian Dermatology Online Journal
Apert syndrome (AS), alternatively known as Acrocephalocyndactyly type II, is an uncommon congenital condition resulting from fibroblast growth factor receptor 2 (FGFR2) gene mutations (Anderson et al. 1998).
Priyansh Gupta, Priyanka Sangwan, Vishal Thakur   +2 more
doaj   +8 more sources

Contemporary Management of the Upper Limb in Apert Syndrome: A Review [PDF]

Plastic and Reconstructive Surgery, Global Open
Background:. Apert syndrome is a relatively rare genetic disorder with a constellation of distinct craniofacial deformities and bilateral syndactyly of the hands and feet.
Nathan Khabyeh-Hasbani, BA, Yi-Hseuh Lu, MD, PhD, William Baumgartner, MD, Shaun D. Mendenhall, MD, Steven M. Koehler, MD   +4 more
doaj   +3 more sources

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report [PDF]

BMC Pregnancy and Childbirth
Background Apert syndrome is a syndromic craniosynostosis primarily caused by pathogenic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
Xiaoying Chen, Pengzhen Jin, Min Chen, Juan Zuo, Jie Liu, Jin Zhu, Miaochun Lin, Zhaohui Li, Minyue Dong   +8 more
doaj   +2 more sources

Apert Syndrome: Oral, Maxillofacial and Dental Management—A Narrative Clinical Review [PDF]

Clinics and Practice
Apert syndrome is a rare genetic disorder characterized by premature fusion of the cranial sutures, syndactyly of the extremities, and distinct craniofacial deformities.
Nikolaos G. A. Kolomvos, Thomai Papadaki, Gregoris Venetis   +2 more
doaj   +2 more sources

Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation [PDF]

Indian Journal of Plastic Surgery, 2021
Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner.
Chandra Bhan Singh, Biswajit Mishra, Rashmi Patel, Ashok Kumar, Akhtar Ali   +4 more
doaj   +2 more sources

Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome [PDF]

Scientific Reports, 2021
Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated.
Bong-Soo Kim, Hye-Rim Shin, Hyun-Jung Kim, Heein Yoon, Young-Dan Cho, Kang-Young Choi, Je-Yong Choi, Woo-Jin Kim, Hyun-Mo Ryoo   +8 more
doaj   +2 more sources

Apert syndrome in a newborn with premature fusion of skull bones, a rostral nose, and cleft palate: A case report [PDF]

Clinical Case Reports
Key Clinical Message This case details a term neonate with Apert syndrome, featuring webbed digits, FGFR2 mutations, skull bone fusion, a rostral nose, and cleft palate.
Navid Faraji, Rasoul Goli, Reza Atharifar, Noushin Shahmirza   +3 more
doaj   +2 more sources

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome [PDF]

Dermatopathology
Pilomatricomas are benign tumors originating from hair follicle matrix cells and represent the most common skin tumors in pediatric patients. Pilomatricomas may be associated with genetic syndromes such as myotonic dystrophy, familial adenomatous ...
Gianmarco Saponaro, Elisa De Paolis, Mattia Todaro, Francesca Azzuni, Giulio Gasparini, Antonio Bosso, Giuliano Ascani, Angelo Minucci, Alessandro Moro   +8 more
doaj   +2 more sources