Results 81 to 90 of about 1,223,696 (186)

Apert Syndrome in Lagos – a Case Report and Literature Review

, 2013
Apert Syndrome is a rare autosomal dominant disorder characterized by premature fusion of sutures of bones of the skull (Craniosynostosis), fingers and toes (Syndactyly) to different degree. Though it is rare, it is pertinent for clinicians to know about
Modupe, Balogun, Bola, Adekoya, Bolanle, Balogun, Ruqayat, Popoola   +3 more
core   +1 more source

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source

The Apert and Crouzon syndromes: General and dental aspects [PDF]

, 2011
Background: Craniofacial malformations, as seen in Apert and Crouzon syndromes, may have an immense impact not only on function and esthetics, but also on the psychosocial well-being of the person affected.
Stavropoulos, Dimitrios
core   +1 more source

Association Between Apert Syndrome And Atrial Septal Defect

, 2016
Apert syndrome, craniosynostosis, mid-face hypoplasia, symmetric syndactyly of the hands and feet, and varying degrees of mental retardation, and is characterized by congenital heart defects.
Kösecik, Mustafa, Dervişoğlu Çavdaroğlu, Pınar, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Çavdaroğlu, Pınar Dervişoğlu   +3 more
core   +1 more source

Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chih-Ping Chen, Yi-Ning Su, Tung-Yao Chang, Schu-Rern Chern, Chen-Yu Chen, Jun-Wei Su, Wayseen Wang   +6 more
doaj   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, Volume 46, Issue 4, Page 589-592, April 2026.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

Mandibular asymmetry in patients with the Crouzon or Apert Syndrome

, 2015
The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert ...
Reitsma, J.H., Elmi, P, Buschang, PH, Ongkosuwito, Edwin, Reitsma, JH, Wolvius, Eppo, Ongkosuwito, E.M., Elmi, P., Wolvius, E.B., Buschang, P.H.   +9 more
core   +1 more source

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 with omphalocele [PDF]

Journal of Perinatology, 2010
T E, Herman, M J, Siegel
openaire   +2 more sources

Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea

Case Reports in Otolaryngology, 2015
Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia.
Nobuto Onda, Shintaro Chiba, Hiroto Moriwaki, Rika Sawai, Akira Yoshigoe, Subaru Watanabe, Yuji Ando, Ryo Uchida, Takeshi Miyawaki, Kota Wada   +9 more
doaj   +1 more source