Say syndrome

Common Name(s)

Say syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Say syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Say syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Use of a patient decision aid for prenatal screening for Down syndrome: what do pregnant women say?
 

Author(s): Maria Esther Leiva Portocarrero, Anik M C Giguère, Johanie Lépine, Mirjam M Garvelink, Hubert Robitaille, Agathe Delanoë, Isabelle Lévesque, Brenda J Wilson, François Rousseau, France Légaré

Journal:

 

Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors ...

Last Updated: 31 Dec 1969

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A case report of AA amyloidosis associated with familial periodic fever syndrome diagnosed after kidney transplantation: never say never.
 

Author(s): M Messina, G Daidola, G Restagno, A Lavacca, A Ranghino, L Biancone, G P Segoloni

Journal: Transplant. Proc.. 2013 Sep;45(7):2778-81.

 

Recurrent or "de novo" AA amyloidosis in the renal allograft is rarely described. We describe a case of severe nephrotic syndrome in a recipient of a kidney graft with a previous diagnosis of polycystic nephropathy caused by AA amyloidosis diagnosed only after the renal transplantation. ...

Last Updated: 31 Dec 1969

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Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
 

Author(s): Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K Voss, Tim Thomas, Leslie G Biesecker, Philip Smith, Alan Fryer, Kate E Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

Journal: Am. J. Hum. Genet.. 2011 Nov;89(5):675-81.

 

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Say syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
 

Author(s): C Perandones, R I Cerretini, R M Vargas Vera, E I Aranda, L G Alba, O H Pivetta

Journal: J. Med. Genet.. 1996 Mar;33(3):227-9.

 

We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.