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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013
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Description
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols. © 2013 Nikkel et al.; licensee BioMed Central Ltd.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3659005/bin/1750-1172-8-63-S1.doc
https://efashare.b-cdn.net/share/pmc/articles/PMC3659005/bin/1750-1172-8-63-S2.xls
Authors & Co-Authors
Nikkel, Sarah M.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Dauber, Andrew
United States, Boston
Boston Children's Hospital
de Munnik, Sonja A.
Netherlands, Nijmegen
Radboud University Medical Center
Connolly, Meghan
United States, Boston
Boston Children's Hospital
Hood, Rebecca L.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Caluseriu, Oana
Canada, Edmonton
University of Alberta
Hurst, Jane A.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Kini, Usha
United Kingdom, Oxford
Oxford University Hospitals Nhs Foundation Trust
Nowaczyk, Malgorzata J.M.
Canada, Hamilton
Mcmaster University Medical Centre
Afenjar, Alexandra
France, Paris
Hôpital Armand-trousseau
Albrecht, Beate
Germany, Essen
Universitätsklinikum Essen
Allanson, Judith E.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Balestri, Paolo
Italy, Siena
Università Degli Studi Di Siena
Ben-Omran, Tawfeg I.M.
Qatar, Doha
Hamad Medical Corporation
Brancati, Francesco
Italy, Rome
Policlinico Tor Vergata
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Cordeiro, Isabel
Portugal, Lisbon
Santa Maria Hospital, Lisbon
Da Cunha, Bruna Santos
Brazil, Porto Alegre
Pontifícia Universidade Católica do Rio Grande do Sul
Delaney, Louisa A.
Brazil, Porto Alegre
Pontifícia Universidade Católica do Rio Grande do Sul
Destree, Anne
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
Fitzpatrick, David R.
United Kingdom, Edinburgh
The University of Edinburgh
Forzano, Francesca
Italy, Genoa
E.o. Ospedali Galliera
Ghali, Neeti
United Kingdom, Harrow
Northwick Park Hospital
Gillies, Greta
Australia, Melbourne
Royal Children's Hospital, Melbourne
Harwood, Katerina
United States, Paterson
St. Joseph's Regional Medical Center
Hendriks, Yvonne M.C.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Héron, Délphine
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Hoischen, Alexander
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Honey, Engela Magdalena
South Africa, Pretoria
University of Pretoria
Hoefsloot, Lies H.
Netherlands, Nijmegen
Radboud University Medical Center
Ibrahim, Jennifer
United States, Paterson
St. Joseph's Regional Medical Center
Jacob, Claire M.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Kant, Sarina G.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Kim, Chong Ae
Brazil, Sao Paulo
Universidade de São Paulo
Kirk, Edwin P.
Australia, Sydney
Sydney Children's Hospital, Randwick
Knoers, Nine V.A.M.
Netherlands, Utrecht
University Medical Center Utrecht
Lacombe, Didier
France, Bordeaux
Université de Bordeaux
Lee, Chung
United States, San Francisco
University of California, San Francisco
Lo, Ivan F.M.
China, Hong Kong
Clinical Genetic Service
Lucas, Luiza S.
Brazil, Porto Alegre
Pontifícia Universidade Católica do Rio Grande do Sul
Mari, Francesca
Italy, Siena
Università Degli Studi Di Siena
Mericq, Verónica
Chile, Santiago
Facultad de Medicina de la Universidad de Chile
Moilanen, Jukka S.
Finland, Oulu
Oulu University Hospital
Møller, Sanne Traasdahl
Denmark, Odense
Odense Universitetshospital
Moortgat, Stéphanie
Belgium, Loverval
Institut de Morphologie Pathologique, Loverval
Pilz, Daniela T.
United Kingdom, Cardiff
University Hospital of Wales
Pope, Kate
Australia, Melbourne
Royal Children's Hospital, Melbourne
Price, Sue M.
United Kingdom, Northampton
Northampton General Hospital Nhs Trust
Renieri, Alessandra
Italy, Siena
Università Degli Studi Di Siena
Sá, Joaquim
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Schoots, Jeroen
Netherlands, Nijmegen
Radboud University Medical Center
Silveira, E. L.
Brazil, Porto Alegre
Ambulatório de Genética Médica da Prefeitura de Porto Alegre
Simon, Marleen E.H.
Netherlands, Rotterdam
Erasmus Mc
Slavotinek, Anne M.
United States, San Francisco
University of California, San Francisco
Temple, I. Karen
United Kingdom, Southampton
University of Southampton
Van Der Burgt, Ineke
Netherlands, Nijmegen
Radboud University Medical Center
De Vries, Bert B.A.
Netherlands, Nijmegen
Radboud University Medical Center
Weisfeld-Adams, James D.
United States, New York
Icahn School of Medicine at Mount Sinai
Whiteford, Margo
United Kingdom, Glasgow
Southern General Hospital Glasgow
Wieczorek, Dagmar
Germany, Essen
Universitätsklinikum Essen
Wit, J. M.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Yee, Connie Fung On
China, Hong Kong
Clinical Genetic Service
Beaulieu, Chandree L.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
White, Susan M.
Australia, Melbourne
Royal Children's Hospital, Melbourne
Bulman, Dennis E.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Bongers, Ernie M.H.F.
Netherlands, Nijmegen
Radboud University Medical Center
Brunner, Han G.
Netherlands, Nijmegen
Radboud University Medical Center
Feingold, Murray
United States, Boston
Boston Children's Hospital
Boycott, Kym M.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Statistics
Citations: 68
Authors: 68
Affiliations: 43
Identifiers
Doi:
10.1186/1750-1172-8-63
e-ISSN:
17501172
Research Areas
Genetics And Genomics
Study Design
Randomised Control Trial
Cohort Study
Participants Gender
Female