Results 11 to 20 of about 262 (109)

Apert syndrome: Analysis of associated brain malformations and conformational changes determined by surgical treatment [PDF]

, 2004
Apert Syndrome, also called acrocephalosyndactylia type 1, is characterized by craniostenosis with early fusion of sutures of the vault and/ or cranial base, associated to mid-face hypoplasia, symmetric syndactylia of the hands and feet and other ...
Gabarra, Roberto Colichio [UNESP], Portela, L., Palhares Neto, Aristides Augusto, Palhares Neto, Aristides Augusto [UNESP], Plese, J. P P, Giglio, A., Yacubian-Fernandes, A., Zanini, S., Yacubian-Fernandes, A. [UNESP], Gabarra, Roberto Colichio   +9 more
core   +1 more source

General and oral aspects in Apert syndrome: report of a case [PDF]

, 2015
Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo, Leonard, R.H., Espías Gómez, Ángel F. (Ángel Fortunato), Herrero-Payo, Julio, Villarreal Becerra, Einer Niels, Sánchez Soler, Luis Alberto   +5 more
core   +2 more sources

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
Saritha, S., Supriya, Sumangala, G., Kumar, M. Praveen   +2 more
core   +1 more source

General and oral aspects in Apert syndrome: report of a case [PDF]

Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo, Leonard, R.H., Espías Gómez, Ángel F. (Ángel Fortunato), Herrero-Payo, Julio, Villarreal Becerra, Einer Niels, Sánchez Soler, Luis Alberto   +5 more
core  

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report. [PDF]

Pan Afr Med J, 2021
Danso KA, Akuaku RS, Young FNA, Wiafe SA.   +3 more
europepmc   +1 more source

Apert syndrome: an informative long-term dentofacial outcome. [PDF]

BMJ Case Rep, 2022
Fowler P, Hallang S, Snape L.
europepmc   +1 more source

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity. [PDF]

BMJ Case Rep, 2021
Mahmud N, Abdul Latif H, Mohd Zaki F, Goh BS.   +3 more
europepmc   +1 more source

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages. [PDF]

Am J Case Rep, 2021
Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H.   +5 more
europepmc   +1 more source

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review. [PDF]

Hum Genomics, 2021
Sáenz SS, Arias B, Hosomichi K, Romero VI.   +3 more
europepmc   +1 more source

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family. [PDF]

Mol Genet Genomic Med, 2022
Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y.   +6 more
europepmc   +1 more source