Results 11 to 20 of about 276 (110)

Acrocephalosyndactylia Associated With a Chromosomal Translocation

American Journal of Diseases of Children, 1970
An infant with typical acrocephalosyndactylia was found to have a consistently present deletion-translocation of the short arms of chromosome 2 to the long arms of one of the chromosomes in the 11-12 group, a karyotype of 46,XX,t (2p−; Cq+). This patient brings the total reported number of abnormal karyotypes in ACS to four of the 24 patients studied ...
W E, Dodson, M, Museles, J L, Kennedy, M, al-Aish   +3 more
openaire   +3 more sources

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   +8 more sources

[Acrocephalosyndactylia: Pfeiffer's syndrome].

Archivio stomatologico, 1987
FEMIANO, Felice, SERPICO, Rosario, LAINO, Gregorio   +2 more
openaire   +3 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  

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

, 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

[Genetic counseling of acrocephalosyndactylia].

Boletin medico del Hospital Infantil de Mexico, 1979
The present paper describes a case with clinical and radiological characteristics of Apert's syndrome. He was the first offspring from second cousins marriage. We considered that in this case, consanguinity is an associated feature. Perhaps this case may be the third one reported in the literature with consanguineous parents.
G, Castañeda Pérez, A, Vargas Origel, J, Guízar Vázquez   +2 more
openaire   +1 more source

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

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  

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

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

Difficult airway management in Apert syndrome for maxillofacial reconstruction: a case report

, 2022
Purwoko Purwoko, Andre Azhar, Septian Adi Permana   +2 more
core   +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