Hugh Rienhoff

Why? — by Hugh Rienhoff — last modified Oct 08, 2007 02:00 PM

The reasons for making public a mysterious case.

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.

A Case of Hypomyoplasia with Marfanoid features — by admin — 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)

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)

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.

A picture showing the jawline — by admin — last modified Oct 08, 2007 02:00 PM

This picture illustrates the recessed jaw or hypognathia

Her Eyes and Brow — by admin — 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.

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.

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.

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

ACVR1B File — by Hugh Rienhoff — last modified Oct 08, 2007 04:14 PM

 

Intent to Treat — by Hugh Rienhoff — last modified Jun 27, 2008 09:41 PM

A rationale for medical therapy.

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).

Acknowledgments — by Hugh Rienhoff — last modified Oct 19, 2007 10:42 AM