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Hugh Rienhoff

by Hugh Rienhoff — last modified Oct 08, 2007 12:41 AM

Home page

Page Why? — by Hugh Rienhoff — last modified Oct 08, 2007 02:00 PM
The reasons for making public a mysterious case.
Page My Best Guess — by Hugh Rienhoff — last modified Oct 27, 2007 01:48 PM
A discussion of how I thought about this case and how I decided which genes to sequence -- a working paper.
Collection A Case of Hypomyoplasia with Marfanoid features — by Administrator — last modified Jun 27, 2008 09:25 PM
A Case History describing the natural history of her clinical findings including muscle weakness, bifid uvula and hypertelorism. (Physician version)
Page A daughter with weak muscles — by Hugh Rienhoff — last modified Sep 13, 2007 07:01 AM
A description of a case of weak muscles, wide eyes, and a forked uvula. (non-physician version)
Image A picture of my daughter's fingers — by Hugh Rienhoff — last modified Oct 08, 2007 02:00 PM
This photograph shows the contractures of her fingers and that her right hand is more affected than her left.
Image A picture showing the jawline — by Administrator — last modified Oct 08, 2007 02:00 PM
This picture illustrates the recessed jaw or hypognathia
Image Her Eyes and Brow — by Administrator — last modified Oct 08, 2007 02:01 PM
This photograph illustrates the tubular ridge of the nose projecting into the forehead or metopic ridge, the widely spaced eyes or hypertelorism, and the blue sclerae or whites of her eyes and the hypoplastic malar prominance.
Page A tabular representation of the clinical history and phenotype — by Hugh Rienhoff — last modified Oct 08, 2007 02:01 PM
This is a tabular form of the clinical data created by Dr. George Church that provides a quick visual summary of the clinical and phenotypic data and potentially allows machine-learning algorithms to analyze cases.
File TGF beta pathway — by Hugh Rienhoff — last modified Oct 08, 2007 02:01 PM
Pathway shows the established and putative intracellular mediators of TGF beta receptor activation by ligand. These include Rho A [JNK,p160], Ras [p38], Tak1 [Erk1,2], PI3K [PKC/Akt], SMAD2 and 3, and PP2A.
Page ACVR1B Exon 10 — by Hugh Rienhoff — last modified Oct 08, 2007 02:26 PM
ACVR1B Gene Sequence for exon 10. The complete gene sequence is in a the ACVR1B file
File ACVR1B File — by Hugh Rienhoff — last modified Oct 08, 2007 04:14 PM
 
Page Intent to Treat — by Hugh Rienhoff — last modified Jun 27, 2008 09:41 PM
A rationale for medical therapy.
Page My Resources — by Hugh Rienhoff — last modified Aug 18, 2007 06:42 AM
An incomplete list of resources to parents and physicians and patients
Page A Hypothesis — by Hugh Rienhoff — last modified Oct 16, 2007 06:00 AM
An in-depth but sometimes speculative discussion of how genetic alterations in the genes of the TGF beta super family of hormones and receptors influence human health.
Page Contact — by Hugh Rienhoff — last modified Oct 08, 2007 04:14 PM
You can contact me directly through hyrjr52@gmail dot com (spelled out for spam prevention).
Page Acknowledgments — by Hugh Rienhoff — last modified Oct 19, 2007 10:42 AM
 
Document Actions

MAKE MAGAZINE

Posted by David Bell at Sep 17, 2008 04:45 AM
A very nice piece in Make Magazine! I LOVE Make magazine. Here is a link to the correct issue: http://makezine.com/15/
I admire greatly your efforts, your love, and your methodology.. but not your boots...your boots are weird.
All the best,
db

I too have a dughter w/an undiagnosed genetic disorder

Posted by Cari Horning at Oct 01, 2008 04:51 AM
Hello - my 9yr old daughter, Kendall, has an undiagnosed gentic disorder. It manifests itself mainly cranial facially at this point. We found out when she was 7, through her first dental X-ray that she is missing 6 adult teeth (usually a syptom of Ectodermal dysplasia). This set off a chain of events where we "connected the dots" of many anomilies we always thought just made Kendall unique: wide spread eyes, broad/flat forehad, no nose bridge, excessively curly hair, very long fingers, tiny ear/nasal canals, narrow & deep pallette. We have seen specialists at the U of W Medical Center and Children's Hospital for the past 2 years - they moved away from Ectodermal Dysplasia to CFC. We have taken a series of genetic test but still have no diagnosis. Kendall is in 4th grade and struggles academically however is a very social and is the hardest working 9 year old I know. She participates in soccer, downhill skiing, boating, but is not truly coordinated. She struggles with her emotions yet has a strong sense of self. If you have any questions please ask - hope this info can help you in some way. Greg & cari Horning

I too have a dughter w/an undiagnosed genetic disorder

Posted by Gary S Gottesman at Jan 17, 2009 07:40 PM
Can you post any pictures of your daughter? I have seen several children with CFC syndrome and might be able to help confirm the UDub geneticists' concerns. Widespread eyes (hypertelorism) and curly hair are certainly hallmarks. Does she have a disproportionately large head or any eye movement abnormalities (nystagmus)?

There are four genes known to be associated with CFC. Prevention Genetics in Marshfield Wisconsin can do the testing on these genes in a sequential manner and they have been quite helpful to me in my clinical practice.

Best regards,

Gary S. Gottesman, M.D., FAAP, FACMG
Associate Professor and Chair
Department of Physician Assistant Education
Saint Louis University