Results 1 to 10 of about 276 (110)

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the gene [PDF]

Korean Journal of Pediatrics, 2010
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes.
Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin   +3 more
doaj   +1 more source

Fibroblast Growth Factor (FGF) Receptor Mutations: A Pathway to Understanding Multigenic Risk in Disease?

International Journal of Medical Students, 2013
Fibroblast growth factor receptor (FGFR) gain-of-function mutations form the pathogenic basis of multiple congenital pathologies. A pioneering body of work over the past two decades has established that a unique mutation selection process within the ...
Stuart J. Mires
doaj   +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

Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert

Journal of Applied Oral Science, 2006
INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface ...
Gisele da Silva Dalben, Lucimara Teixeira das Neves, Marcia Ribeiro Gomide   +2 more
doaj   +1 more source

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Arquivos de Neuro-Psiquiatria
Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.
Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes   +5 more
doaj   +1 more source

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

The Application of Clinical Genetics, 2020
Laura Torres-Canchala,1 Daniela Castaño,2 Nathalia Silva,2 Ana María Gómez,2 Alejandro Victoria,3 Harry Pachajoa4,5 1Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; 2Newborn Intensive Care ...
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H   +5 more
doaj  

Diagnóstico y evolución de un paciente con acrocefalosindactilia tipo I o síndrome de Apert

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
El síndrome de Apert es una afección genética que constituye una rareza médica, dada su escasa frecuencia; se caracteriza por craneosinostosis congénita, sindactilia de las manos y de los pies, anquilosis diversas y sinostosis progresiva de las manos ...
Milvia Castillo Guerrero, Rosa Eugenia Pérez Ricardo, Misleydis Pérez Rodríguez   +2 more
doaj  

Apert Syndrome - caveats of squint management. [PDF]

Rom J Ophthalmol, 2023
Khurana R, Singh A, Kochhar D, Sundar S.
europepmc   +1 more source

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports. [PDF]

Medicine (Baltimore), 2022
Wang L, Li R, Zhai J, Zhang B, Wu J, Pang L, Liu Y.   +6 more
europepmc   +1 more source

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