Literature DB >> 4641185

Familial acrocephalosyndactyly (Pfeiffer syndrome).

R M Saldino, H L Steinbach, C J Epstein.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 4641185     DOI： 10.2214/ajr.116.3.609

Source DB:  PubMed          Journal:  Am J Roentgenol Radium Ther Nucl Med        ISSN： 0002-9580


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  15 in total

1.  Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.

Authors:  C D Robson; J B Mulliken; R L Robertson; M R Proctor; D Steinberger; P D Barnes; A McFarren; U Müller; D Zurakowski
Journal:  AJNR Am J Neuroradiol       Date:  2000-10       Impact factor: 3.825

2.  Webbed fingers.

Authors:  Adrian E Flatt
Journal:  Proc (Bayl Univ Med Cent)       Date:  2005-01

3.  Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

Authors:  Elisa Merello; Lorenzo Tattini; Alberto Magi; Andrea Accogli; Gianluca Piatelli; Marco Pavanello; Domenico Tortora; Armando Cama; Zoha Kibar; Valeria Capra; Patrizia De Marco
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

Review 4.  Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Authors:  Nneamaka B Agochukwu; Benjamin D Solomon; Laurel J Benson; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2013-02-01       Impact factor: 2.802

Review 5.  Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Authors:  Nneamaka B Agochukwu; Benjamin D Solomon; Maximilian Muenke
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

6.  The so-calle "Cloverleaf Skull Syndrome". A report of three cases with a discussion of its relationships with thanatophoric dwarfism and the craniostenoses.

Authors:  G Iannaccone; G Gerlini
Journal:  Pediatr Radiol       Date:  1974

Review 7.  Hydrocephalus and Chiari type I malformation.

Authors:  Concezio Di Rocco; Paolo Frassanito; Luca Massimi; Simone Peraio
Journal:  Childs Nerv Syst       Date:  2011-09-17       Impact factor: 1.475

8.  Pitfalls of genetic counselling in Pfeiffer's syndrome.

Authors:  M Baraitser; M Bowen-Bravery; P Saldaña-Garcia
Journal:  J Med Genet       Date:  1980-08       Impact factor: 6.318

9.  Pfeiffer syndrome: report of a family and review of the literature.

Authors:  Y Naveh; A Friedman
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

10.  Role of "major" and "minor" lambdoid arch sutures in posterior cranial fossa changes: mechanism of cerebellar tonsillar herniation in infants with multisutural craniosynostosis.

Authors:  Rosalinda Calandrelli; Gabriella D'Apolito; Marco Panfili; Luca Massimi; Massimo Caldarelli; Cesare Colosimo
Journal:  Childs Nerv Syst       Date:  2015-11-16       Impact factor: 1.475
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